En la actualidad, toda pareja que quiera evitar la transmisión de enfermedades genéticas a sus futuros hijos puede hacerlo realizando un Test de Compatibilidad Genética (TCG), también denominado Screening Preconcepcional de Enfermedades Recesivas.

El TCG del Instituto Bernabeu,  es un novedoso análisis que utiliza una tecnología denominada secuenciación masiva de ADN o de nueva generación (NGS), mediante la cual estudiamos en una sencilla muestra de sangre 555 mutaciones genéticas causantes de más de 600 enfermedades autosómicas recesivas.

grafico tcg

A continuación informamos de las mutaciones que se analizan en el TCG que realizamos en INSTITUTO BERNABEU:

Las 600 enfermedades recesivas que detecta el Test de Compatibilidad Genética (TCG)

COMPATIBILITY GENETIC TEST

GENE LOCUS DISEASE OMIM
AAAS 12q13.13 Achalasia-addisonianism-alacrimia syndrome 231550
ABCA12 2q35 Ichthyosis, autosomal recessive 4B (harlequin) 242500
ABCA3 16p13.3 Surfactant metabolism dysfunction, pulmonary, 3 610921
ABCB11 2q31.1 Cholestasis, benign recurrent intrahepatic, 2 605479
Cholestasis, progressive familial intrahepatic 2 601847
ABCB4 7q21.12 Cholestasis, intrahepatic, of pregnancy, 3 614972
Cholestasis, progressive familial intrahepatic 3 602347
Gallbladder disease 1 600803
ABCC8 11p15.1 Diabetes mellitus, noninsulin-dependent 125853
Diabetes mellitus, permanent neonatal 606176
Diabetes mellitus, transient neonatal 2 610374
Hyperinsulinemic hypoglycemia, familial, 1 256450
Hypoglycemia of infancy, leucine-sensitive 240800
ABCD1 Xq28 Adrenoleukodystrophy 300100
Adrenomyeloneuropathy, adult 300100
ACAD9 3q21.3 Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
ACADL 17p13.1 VLCAD deficiency 201475
ACADM 1p31.1 Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
ACADVL 17p13.1 VLCAD deficiency 201475
ACAT1 11q22.3 Alpha-methylacetoacetic aciduria 203750
ACOX1 17q25.1 Peroxisomal acyl-CoA oxidase deficiency 264470
ACSL4 Xq23 Mental retardation, X-linked 63 300387
ADA 20q13.12 Severe combined immunodeficiency due to ADA deficiency 102700
Adenosine deaminase deficiency, partial 102700
ADAMTS13 9q34.2 Thrombotic thrombocytopenic purpura, familial 274150
ADAMTSL2 9q34.2 Geleophysic dysplasia 1 231050
ADCK3 1q42.13 Coenzyme Q10 deficiency, primary, 4 612016
AFF2 (FMR2) Xq28 Mental retardation, X-linked, FRAXE type 309548
AGL 1p21.2 Glycogen storage disease IIIa 232400
Glycogen storage disease IIIb 232400
AGPS 2q31.2 Rhizomelic chondrodysplasia punctata, type 3 600121
AGTR2 Xq24 Mental retardation, X-linked 88 300852
AHI1 6q23.3 Joubert syndrome-3 608629
AIRE 21q22.3 Autoimmune polyendocrinopathy syndrome , type I, with or without

reversible metaphyseal dysplasia

240300
ALDH3A2 17p11.2 Sjogren-Larsson syndrome 270200
ALDH5A1 6p22.3 Succinic semialdehyde dehydrogenase deficiency 271980
ALDH7A1 5q23.2 Epilepsy, pyridoxine-dependent 266100
ALDOB 9q31.1 Fructose intolerance 229600
ALG1 16p13.3 Congenital disorder of glycosylation, type Ik
ALG12 22q13.33 Congenital disorder of glycosylation, type Ig 607143
ALG2 9q22.33 Congenital disorder of glycosylation, type Ii 607906
Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
ALG3 3q27.1 Congenital disorder of glycosylation, type Id 601110
ALG6 1p31.3 Congenital disorder of glycosylation, type Ic 603147
ALG8 11q14.1 Congenital disorder of glycosylation, type Ih 608104
ALG9 11q23.1 Congenital disorder of glycosylation, type Il 608776
ALMS1 2p13.1 Alstrom syndrome 203800
ALPL 1p36.12 Hypophosphatasia, adult 146300
Hypophosphatasia, childhood 241510
Hypophosphatasia, infantile 241500
Odontohypophosphatasia 146300
ALS2 2q33.1 Amyotrophic lateral sclerosis 2, juvenile 205100
Primary lateral sclerosis, juvenile 606353
Spastic paralysis, infantile onset ascending 607225
AMACR 5p13.2 Alpha-methylacyl-CoA racemase deficiency 614307
Bile acid synthesis defect, congenital, 4 214950
AMT 3p21.31 Glycine encephalopathy 605899
ANTXR2 4q21.21 Hyaline fibromatosis syndrome 228600
AP1S2 Xp22.2 Mental retardation, X-linked syndromic 5 304340
AP3B1 5q14.1 Hermansky-Pudlak syndrome 2 608233
APTX 9p21.1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920
AR Xq12 Androgen insensitivity 300068
Androgen insensitivity, partial, with or without breast cancer 312300
Hypospadias 1, X-linked 300633
Spinal and bulbar muscular atrophy of Kennedy 313200
ARHGEF6 Xq26.3 Mental retardation, X-linked 46 300436
ARHGEF9 Xq11.1-q11.2 Epileptic encephalopathy, early infantile, 8 300607
ARSA 22q13.33 Metachromatic leukodystrophy 250100
ARSB 5q14.1 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
ARSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950
ARX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350
Hydranencephaly with abnormal genitalia 300215
Lissencephaly, X-linked 2 300215
Mental retardation, X-linked 29 and others 300419
Partington syndrome 309510
Proud syndrome 300004
ASL 7q11.21 Argininosuccinic aciduria 207900
ASPA 17p13.2 Canavan disease 271900
ASS1 9q34.11 Citrullinemia 215700
ATM 11q22.3 Ataxia-telangiectasia 208900
ATP6V0A2 12q24.31 Cutis laxa, autosomal recessive, type IIA 219200
Wrinkly skin syndrome 278250
ATP7A Xq21.1 Menkes disease 309400
Occipital horn syndrome 304150
Spinal muscular atrophy, distal, X-linked 3 300489
ATP7B 13q14.3 Wilson disease 277900
ATP8B1 18q21.31 Cholestasis, benign recurrent intrahepatic 243300
Cholestasis, intrahepatic, of pregnancy, 1 147480
Cholestasis, progressive familial intrahepatic 1 211600
ATR 3q23 Cutaneous telangiectasia and cancer syndrome, familial 614564
Seckel syndrome 1 210600
ATRX Xq21.1 Alpha-thalassemia myelodysplasia syndrome, somatic 300448
Alpha-thalassemia/mental retardation syndrome 301040
Mental retardation-hypotonic facies syndrome, X-linked 309580
AUH 9q22.31 3-methylglutaconic aciduria, type I 250950
B4GALT1 9p21.1 Congenital disorder of glycosylation, type IId 607091
BCKDHA 19q13.2 Maple syrup urine disease, type Ia 248600
BCKDHB 6q14.1 Maple syrup urine disease, type Ib 248600
BCOR Xp11.4 Microphthalmia, syndromic 2 300166
BCS1L 2q35 Bjornstad syndrome 262000
GRACILE syndrome 603358
Leigh syndrome 256000
Mitochondrial complex III deficiency, nuclear type 1 124000
BLM 15q26.1 Bloom syndrome 210900
BRWD3 Xq21.1 Mental retardation, X-linked 93 300659
BTD 3p25.1 Biotinidase deficiency 253260
BTK Xq22.1 Agammaglobulinemia and isolated hormone deficiency 307200
Agammaglobulinemia, X-linked 1 300755
C10orf2 10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Perrault syndrome 5
CA2 8q21.2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
CASK Xp11.4 FG syndrome 4 300422
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749
Mental retardation, with or without nystagmus 300422
Non-Hodgkin lymphoma, somatic 605027
CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200
Thrombosis, hyperhomocysteinemic 236200
CD19 16p11.2 Immunodeficiency, common variable, 3 613493
CD247 1q24.2 Immunodeficiency 25 610163
CD3D 11q23.3 Immunodeficiency 19 615617
CD3E 11q23.3 Immunodeficiency 18 615615
Immunodeficiency 18, SCID variant 615615
CD3G 11q23.3 Immunodeficiency 17, CD3 gamma deficient 615607
CD40LG Xq26.3 Immunodeficiency, X-linked, with hyper-IgM 308230
CDH23 10q22.1 Deafness, autosomal recessive 12 601386
Usher syndrome, type 1D 601067
Usher syndrome, type 1D/F digenic 601067
CDKL5 Xp22.13 Angelman syndrome-like 105830
Epileptic encephalopathy, early infantile, 2 300672
CEP290 12q21.32 Bardet-Biedl syndrome 14 615991
Joubert syndrome 5 610188
Leber congenital amaurosis 10 611755
Meckel syndrome 4 611134
Senior-Loken syndrome 6 610189
CFP Xp11.23 Properdin deficiency, X-linked 312060
CFTR 7q31.2 Cystic fibrosis 219700
CHRNA1 2q31.1 Multiple pterygium syndrome, lethal type 253290
Myasthenic syndrome, congenital, 1A, slow-channel 601462
Myasthenic syndrome, congenital, 1B, fast-channel 608930
CHRND 2q37.1 Myasthenic syndrome, congenital, 3A, slow-channel 616321
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor

deficiency

616323
Multiple pterygium syndrome, lethal type 253290
Myasthenic syndrome, congenital, 3B, fast-channel
CHRNG 2q37.1 Escobar syndrome 265000
Multiple pterygium syndrome, lethal type 253290
CLCN5 Xp11.23-p11.22 Dent disease 300009
Hypophosphatemic rickets 300554
Nephrolithiasis, type I 310468
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600
Osteopetrosis, autosomal recessive 4 611490
CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 607626
CLDN19 1p34.2 Hypomagnesemia 5, renal, with ocular involvement 248190
CLN3 16p11.2 Ceroid lipofuscinosis, neuronal, 3 204200
CLN5 13q22.3 Ceroid lipofuscinosis, neuronal, 5 256731
CLN6 15q23 Ceroid lipofuscinosis, neuronal, 6 601780
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
CLN8 8p23.3 Ceroid lipofuscinosis, neuronal, 8 600143
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
CLRN1 3q25.1 Retinitis pigmentosa 61 614180
Usher syndrome, type 3A 276902
COG1 17q25.1 Congenital disorder of glycosylation, type IIg 611209
COG7 16p12.2 Congenital disorder of glycosylation, type IIe 608779
COG8 16q22.1 Congenital disorder of glycosylation, type IIh 611182
COL17A1 10q24.3-q25.1 Epidermolysis bullosa, junctional, non-Herlitz type 226650
COL4A3 2q36.3 Alport syndrome, autosomal dominant 104200
Alport syndrome, autosomal recessive 203780
Hematuria, benign familial 141200
COL4A 2q36.3 Alport syndrome, autosomal recessive 203780
Hematuria, familial benign
COL4A5 Xq22.3 Alport syndrome 301050
COL7A1 3p21.31 EBD inversa 226600
EBD, Bart type 132000
EBD, localisata variant
Epidermolysis bullosa dystrophica, AD 131750
Epidermolysis bullosa dystrophica, AR 226600
Epidermolysis bullosa pruriginosa 604129
Epidermolysis bullosa, pretibial 131850
Toenail dystrophy, isolated 607523
Transient bullous of the newborn 131705
COQ2 4q21.23 Coenzyme Q10 deficiency, primary, 1 607426
COQ9 16q21 Coenzyme Q10 deficiency, primary, 5 614654
COX10 17p12 Leigh syndrome due to mitochondrial COX4 deficiency 256000
Mitochondrial complex IV deficiency 220110
COX15 10q24.2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

deficiency 2

615119
Leigh syndrome due to cytochrome c oxidase deficiency 256000
COX6B1 19q13.12 Mitochondrial complex IV deficiency 220110
CPS1 2q34 Carbamoylphosphate synthetase I deficiency 237300
CPT1A 11q13.3 CPT deficiency, hepatic, type IA 255120
CPT2 1p32.3 CPT deficiency, hepatic, type II 600649
CPT II deficiency, lethal neonatal 608836
Myopathy due to CPT II deficiency 255110
CRLF1 19p13.11 Cold-induced sweating syndrome 1 272430
CRTAP 3p22.3 Osteogenesis imperfecta, type VII 610682
CSTB 21q22.3 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
CTNS 17p13.2 Cystinosis, atypical nephropathic 219800
Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Cystinosis, nephropathic 219800
Cystinosis, ocular nonnephropathic 219750
CTSD 11p15.5 Ceroid lipofuscinosis, neuronal, 10 610127
CTSK 1q21.3 Pycnodysostosis 265800
CUL4B Xq24 Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
CYP11A1 15q24.1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
CYP11B1 8q24.3 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010
Aldosteronism, glucocorticoid-remediable 103900
CYP17A1 10q24.32 17,20-lyase deficiency, isolated 202110
17-alpha-hydroxylase/17,20-lyase deficiency 202110
CYP21A2 6p21.33 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910
CYP27A1 2q35 Cerebrotendinous xanthomatosis 213700
CYP27B1 12q14.1 Vitamin D-dependent rickets, type I 264700
DBT 1p21.2 Maple syrup urine disease, type II 248600
DCLRE1C 10p13 Omenn syndrome 603554
Severe combined immunodeficiency, Athabascan type 602450
DCX Xq23 Lissencephaly, X-linked 300067
Subcortical laminal heteropia, X-linked 300067
DDB2 11p11.2 Xeroderma pigmentosum, group E, DDB-negative subtype 278740
DDC 7p12.1 Aromatic L-amino acid decarboxylase deficiency 608643
DGUOK 2p13.1 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880
DHCR24 1p32.3 Desmosterolosis 602398
DHCR7 11q13.4 Smith-Lemli-Opitz syndrome 270400
DKC1 Xq28 Dyskeratosis congenita, X-linked 305000
DLD 31.1 Dihydrolipoamide dehydrogenase deficiency 246900
DLG3 Xq13.1 Mental retardation, X-linked 90 300850
DLL3 19q13.2 Spondylocostal dysostosis 1, autosomal recessive 277300
DMD Xp21.2-p21.1 Becker muscular dystrophy 300376
Cardiomyopathy, dilated, 3B 302045
Duchenne muscular dystrophy 310200
DMP1 4q22.1 Hypophosphatemic rickets, AR 241520
DNAJC19 3q26.33 3-methylglutaconic aciduria, type V 610198
DNMT3B 20q11.21 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860
DOCK8 9p24.3 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700
Mental retardation, autosomal dominant 2 614113
DOLK 9q34.11 Congenital disorder of glycosylation, type Im 610768
DPAGT1 11q23.3 Congenital disorder of glycosylation, type Ij 608093
Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
DPM1 20q13.13 Congenital disorder of glycosylation, type Ie 608799
DPYD 1p21.3 Dihydropyrimidine dehydrogenase deficiency 274270
DSP 6p24.3 Arrhythmogenic right ventricular dysplasia 8 607450
Cardiomyopathy, dilated, with woolly hair and keratoderma 605676
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821
Epidermolysis bullosa, lethal acantholytic 609638
Keratosis palmoplantaris striata II 612908
Skin fragility-woolly hair syndrome 607655
DYNC2H1 11q22.3 Short-rib thoracic dysplasia 3 with or without polydactyly 613091
EDA Xq13.1 Ectodermal dysplasia 1, hypohidrotic, X-linked 305100
Tooth agenesis, selective, X-linked 1 313500
EDN3 20q13.32 Central hypoventilation syndrome, congenital 209880
Waardenburg syndrome, type 4B 613265
EDNRB 13q22.3 ABCD syndrome 600501
Waardenburg syndrome, type 4A 277580
EFEMP2 11q13.1 Cutis laxa, autosomal recessive, type IB 614437
EFNB1 Xq13.1 Craniofrontonasal dysplasia 304110
EGR2 10q21.3 Charcot-Marie-Tooth disease, type 1D 607678
Dejerine-Sottas disease 145900
Neuropathy, congenital hypomyelinating, 1 605253
EIF2AK3 2p11.2 Wolcott-Rallison syndrome 226980
ENPP1 6q23.2 Arterial calcification, generalized, of infancy, 1 208000
Cole disease 615522
Hypophosphatemic rickets, autosomal recessive, 2 613312
Diabetes mellitus, non-insulin-dependent, susceptibility to 125853
Obesity, susceptibility to 601665
EPM2A 6q24.3 Epilepsy, progressive myoclonic 2A (Lafora) 254780
ERBB3 12q13.2 Lethal congenital contractural syndrome 2 607598
ERCC2 19q13.32 Cerebrooculofacioskeletal syndrome 2 610756
Trichothiodystrophy 1, photosensitive 601675
Xeroderma pigmentosum, group D 278730
ERCC3 2q14.3 Trichothiodystrophy 2, photosensitive 616390
Xeroderma pigmentosum, group B 610651
ERCC4 16p13.12 Fanconi anemia, complementation group Q 610965
Xeroderma pigmentosum, group F 278760
Xeroderma pigmentosum, type F/Cockayne syndrome 278760
XFE progeroid syndrome 610965
ERCC5 3q33.1 Xeroderma pigmentosum, group G 278780
Xeroderma pigmentosum, group G/Cockayne syndrome 278780
ERCC6 10q11.23 Cerebrooculofacioskeletal syndrome 1 214150
Cockayne syndrome, type B 133540
De Sanctis-Cacchione syndrome 278800
UV-sensitive syndrome 1 600630
Macular degeneration, age-related, susceptibility to 5 613761
ERCC8 5q12.1 Cockayne syndrome, type A 216400
UV-sensitive syndrome 2 614621
ESCO2 8p21.1 Roberts syndrome 268300
SC phocomelia syndrome 269000
ETFA 15q24.2-q24.3 Glutaric acidemia IIA 231680
ETFB 19q13.41 Glutaric acidemia IIB 231680
ETFDH 4q32.1 Glutaric acidemia IIC 231680
ETHE1 19q13.31 Ethylmalonic encephalopathy 602473
EVC 4p16.2 Ellis-van Creveld syndrome 225500
Weyers acrodental dysostosis 193530
EVC2 4p16.2 Ellis-van Creveld syndrome 225500
Weyers acrofacial dysostosis 193530
F8 Xq28 Hemophilia A 306700
F9 Xq27.1 Hemophilia B 306900
Thrombophilia, X-linked, due to factor IX defect 300807
Deep venous thrombosis, protection against 300807
Warfarin sensitivity 122700
FAH 15q25.1 Tyrosinemia, type I 276700
FAM126A 7p15.3 Leukodystrophy, hypomyelinating, 5 610532
FAM20C 7p22.3 Raine syndrome 259775
FANCC 9q22.32 Fanconi anemia, complementation group C 227645
FAS 10q23.31 Autoimmune lymphoproliferative syndrome, type IA 601859
Squamous cell carcinoma, burn scar-related, somatic
Autoimmune lymphoproliferative syndrome 601859
FASLG 1q24.3 Autoimmune lymphoproliferative syndrome, type IB 601859
FASTKD2 2q33.3 Mitochondrial complex IV deficiency 220110
FBLN5 14q32.12 Cutis laxa, autosomal recessive, type IA 219100
FERMT3 11q13.1 Leukocyte adhesion deficiency, type III 612840
FGA 4q31.3 Afibrinogenemia, congenital 202400
Amyloidosis, familial visceral 105200
Dysfibrinogenemia, congenital 616004
Hypodysfibrinogenemia, congenital 616004
FGD1 Xp11.22 Aarskog-Scott syndrome 305400
Mental retardation, X-linked syndromic 16 305400
FGD4 12p11.21 Charcot-Marie-Tooth disease, type 4H 609311
FH 19p13.2 Hypercholesterolemia, familial 143890
LDL cholesterol level QTL2 143890
FKRP 19q13.32 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

anomalies), type A, 5

613153
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
FKTN 9q31.2 Cardiomyopathy, dilated, 1X 611615
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

anomalies), type A, 4

253800
Muscular dystrophy-dystroglycanopathy (congenital without mental

retardation), type B, 4

613152
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
FOLR1 11q13.4 Neurodegeneration due to cerebral folate transport deficiency 613068
FOXG1 14q12 Rett syndrome, congenital variant 613454
FOXN1 17q11.2 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 601705
FOXP3 Xp11.23 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790
Diabetes mellitus, type I, susceptibility to 222100
FRAS1 4q21.21 Fraser syndrome 219000
FREM2 13q13.3 Fraser syndrome 219000
FTSJ1 Xp11.23 Mental retardation, X-linked 9 309549
FUCA1 1p36.11 Fucosidosis 230000
G6PC3 17q21.31 Dursun syndrome 612541
Neutropenia, severe congenital 4, autosomal recessive 612541
G6PD Xq28 Favism 134700
Hemolytic anemia due to G6PD deficiency 300908
Resistance to malaria due to G6PD deficiency 611162
GAA 17q25.3 Glycogen storage disease II 232300
GALC 14q31.3 Krabbe disease 245200
GALK1 17q25.1 Galactokinase deficiency with cataracts 230200
GALT 9p13.3 Galactosemia 230400
GAMT 19p13.3 Cerebral creatine deficiency syndrome 2 612736
GBA 1q22 Gaucher disease, perinatal lethal 608013
Gaucher disease, type I 230800
Gaucher disease, type II 230900
Gaucher disease, type III 231000
Gaucher disease, type IIIC 231005
Lewy body dementia, susceptibility to 127750
Parkinson disease, late-onset, susceptibility to 168600
GBE1 3p12.2 Glycogen storage disease IV 232500
Polyglucosan body disease, adult form 263570
GCDH 19p13.2 Glutaricaciduria, type I 231670
GCSH 16q23.2 Glycine encephalopathy 605899
GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 607706
Charcot-Marie-Tooth disease, recessive intermediate, A 608340
Charcot-Marie-Tooth disease, type 4A 214400
GDI1 Xq28 Mental retardation, X-linked 41 300849
GFM1 3q25.32 Combined oxidative phosphorylation deficiency 1 609060
GJB2 13q12.11 Bart-Pumphrey syndrome 149200
Deafness, autosomal dominant 3A 601544
Deafness, autosomal recessive 1A 220290
Hystrix-like ichthyosis with deafness 602540
Keratitis-ichthyosis-deafness syndrome 148210
Keratoderma, palmoplantar, with deafness 148350
Vohwinkel syndrome 124500
GJC2 1q42.13 Leukodystrophy, hypomyelinating, 2 608804
Lymphedema, hereditary, IC 613480
Spastic paraplegia 44, autosomal recessive 613206
GLA Xq22.1 Fabry disease 301500
Fabry disease, cardiac variant 301500
GLB1 3p22.3 GM1-gangliosidosis, type I 230500
GM1-gangliosidosis, type II 230600
GM1-gangliosidosis, type III 230650
Mucopolysaccharidosis type IVB (Morquio) 253010
GLDC 9p24.1 Glycine encephalopathy 605899
GLE1 9q34.11 Arthrogryposis, lethal, with anterior horn cell disease 611890
Lethal congenital contracture syndrome 1 253310
GNPTAB 12q23.2 Mucolipidosis II alpha/beta 252500
Mucolipidosis III alpha/beta 252600
GNRHR 4q13.2 Hypogonadotropic hypogonadism 7 without anosmia 146110
GPC3 Xq26.2 Simpson-Golabi-Behmel syndrome, type 1 312870
Wilms tumor, somatic 194070
GPR98 5q14.3 Febrile seizures, familial, 4 604352
Usher syndrome, type 2C 605472
Usher syndrome, type 2C, GPR98/PDZD7 digenic 605472
GRIK2 6q16.3 Mental retardation, autosomal recessive, 6 611092
GSS 20q11.22 Glutathione synthetase deficiency 266130
Hemolytic anemia due to glutathione synthetase deficiency 231900
GTF2H5 6q25.3 Trichothiodystrophy 3, photosensitive 616395
GUSB 7q11.21 Mucopolysaccharidosis VII 253220
HADH 4q25 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
Hyperinsulinemic hypoglycemia, familial, 4 609975
HADHA 2p23.3 Fatty liver, acute, of pregnancy 609016
HELLP syndrome, maternal, of pregnancy 609016
LCHAD deficiency 609016
Trifunctional protein deficiency 609015
HADHB 2p23.3 Trifunctional protein deficiency 609015
HAMP 19q13.12 Hemochromatosis, type 2B 613313
HAX1 1q21.3 Neutropenia, severe congenital 3, autosomal recessive 610738
HBA1 16p13.3 Erythremias, alpha- 141800
Heinz body anemias, alpha- 140700
Hemoglobin H disease, nondeletional 613978
Methemoglobinemias, alpha- 141800
Thalassemias, alpha- 604131
HBB 11p15.4 Delta-beta thalassemia 141749
Erythremias, beta- 141800
Heinz body anemias, beta- 140700
Hereditary persistence of fetal hemoglobin 141749
Methemoglobinemias, beta- 141900
Sickle cell anemia 603903
Thalassemias, beta- 613985
HESX1 3p14.3 Growth hormone deficiency with pituitary anomalies 182230
Pituitary hormone deficiency, combined, 5 182230
Septooptic dysplasia 182230
HEXA 15q23 GM2-gangliosidosis, several forms 272800
Tay-Sachs disease 272800
Hex A pseudodeficiency 272800
HEXB 5q13.3 Sandhoff disease, infantile, juvenile, and adult forms 268800
HFE2 1q21.1 Hemochromatosis, type 2A 602390
HGSNAT 8p11.21 Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
HIBCH 2q32.2 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
HLCS 21q22.13 Holocarboxylase synthetase deficiency 253270
HMGCL 1p36.11 HMG-CoA lyase deficiency 246450
HP 12q24.31 Hawkinsinuria 140350
Tyrosinemia, type III 276710
HPRT Xq26.2-q26.3 KELLEY-SEEGMILLER SYNDROME 300323
Lesch-Nyhan syndrome 300322
HSD11B2 16q22.1 Apparent mineralocorticoid excess 218030
HSD17B10 Xp11.22 17-beta-hydroxysteroid dehydrogenase X deficiency 300438
Mental retardation, X-linked syndromic 10 300220
HSD17B3 9q22.32 Pseudohermaphroditism, male, with gynecomastia 264300
HSD17B4 5q23.1 D-bifunctional protein deficiency 261515
Perrault syndrome 1 233400
HSD3B2 1p12 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810
HSPG2 1p36.12 Dyssegmental dysplasia, Silverman-Handmaker type 224410
Schwartz-Jampel syndrome, type 1 255800
HUWE1 Xp11.22 Mental retardation, X-linked syndromic, Turner type 300706
ICOS 2q33.2 Immunodeficiency, common variable, 1 607594
IDS Xq28 Mucopolysaccharidosis II 309900
IDUA 4p16.3 Mucopolysaccharidosis Ih ( Hurler Syndrome) 607014
Mucopolysaccharidosis Ih/s ( HURLER-SCHEIE SYNDROME) 607015
Mucopolysaccharidosis Is (SCHEIE SYNDROME) 607016
IFNGR1 6q23.3 Immunodeficiency 27A, mycobacteriosis, AR 209950
Immunodeficiency 27B, mycobacteriosis, AD 615978
IFNGR2 21q22.11 Immunodeficiency 28, mycobacteriosis 614889
IFT80 3q25.33 Short-rib thoracic dysplasia 2 with or without polydactyly 611263
IGHMBP2 11q13.3 Charcot-Marie-Tooth disease, axonal, type 2S 616155
Neuronopathy, distal hereditary motor, type VI 604320
IKBKAP 9q31.3 Dysautonomia, familial 223900
IKBKG Xq28 Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Immunodeficiency 33 300636
Immunodeficiency, isolated 300584
Incontinentia pigmenti 308300
IL12B 5q33.3 Immunodeficiency 29, mycobacteriosis 614890
IL12RB1 19p13.11 Immunodeficiency 30 614891
IL1RAPL1 Xp21.3-p21.2 Mental retardation, X-linked 21/34 300143
IL1RN 2q13 Interleukin 1 receptor antagonist deficiency 612852
Microvascular complications of diabetes 4 612628
IL2R Xq13.1 Combined immunodeficiency, X-linked, moderate 312863
Severe combined immunodeficiency, X-linked 300400
INSR 19p13.2 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
Hyperinsulinemic hypoglycemia, familial, 5 609968
Leprechaunism 246200
Rabson-Mendenhall syndrome 262190
INVS 9q31.1 Nephronophthisis 2, infantile 602088
IQCB1 3q13.33 Senior-Loken syndrome 5 609254
ITGA6 2q31.1 Epidermolysis bullosa, junctional, with pyloric stenosis 226730
ITGB4 17q25.1 Epidermolysis bullosa of hands and feet 131800
Epidermolysis bullosa, junctional, non-Herlitz type 226650
Epidermolysis bullosa, junctional, with pyloric atresia 226730
IVD 15q15.1 Isovaleric acidemia 243500
JAK3 19p13.11 SCID, autosomal recessive, T-negative/B-positive type 600802
KCNJ1 11q24.3 Bartter syndrome, type 2 241200
KDM5C Xp11.22 Mental retardation, X-linked, syndromic, Claes-Jensen type 300534
L1CAM Xq28 Corpus callosum, partial agenesis of 304100
CRASH syndrome 303350
Hydrocephalus due to aqueductal stenosis 307000
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
Hydrocephalus with Hirschsprung disease 307000
MASA syndrome 303350
LAMA2 6q22.33 Muscular dystrophy, congenital merosin-deficient 607855
Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
LAMA3 18q11.2 Epidermolysis bullosa, generalized atrophic benign 226650
Epidermolysis bullosa, junctional, Herlitz type 226700
Laryngoonychocutaneous syndrome 245660
LAMB2 3p21.31 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Pierson syndrome 609049
LAMB3 1q32.2 Amelogenesis imperfecta, type IA 104530
Epidermolysis bullosa, junctional, Herlitz type 226700
Epidermolysis bullosa, junctional, non-Herlitz type 226650
LAMC2 1q25.3 Epidermolysis bullosa, junctional, Herlitz type 226700
Epidermolysis bullosa, junctional, non-Herlitz type 226650
LARGE 22q12.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

anomalies), type A, 6

613154
Muscular dystrophy-dystroglycanopathy (congenital with mental

retardation), type B, 6

608840
LBR 1q42.12 Reynolds syndrome 613471
Greenberg skeletal dysplasia 215140
Pelger-Huet anomaly 169400
LEPRE1 1p34.2 Osteogenesis imperfecta, type VIII 610915
LHCGR 2p16.3 Leydig cell adenoma, somatic, with precocious puberty 176410
Leydig cell hypoplasia with hypergonadotropic hypogonadism 238320
Leydig cell hypoplasia with pseudohermaphroditism 238320
Luteinizing hormone resistance, female 238320
Precocious puberty, male 176410
LHX3 9q34.3 Pituitary hormone deficiency, combined, 3 221750
LIFR 5p13.1 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
LIG4 13q33.3 LIG4 syndrome 606593
LRP2 2q31.1 Donnai-Barrow syndrome 222448
LRPPRC 2p21 Leigh syndrome, French-Canadian type 220111
LYST 1q42.3 Chediak-Higashi syndrome 214500
MAN2B1 19p13.2 Mannosidosis, alpha-, types I and II 248500
MBTPS2 Xp22.12-p22.11 Olmsted syndrome, X-linked 300918
IFAP syndrome with or without BRESHECK syndrome 308205
Keratosis follicularis spinulosa decalvans, X-linked 308800
MCOLN1 19p13.2 Mucolipidosis IV 252650
MECP2 Xq28 Angelman syndrome 105830
Encephalopathy, neonatal severe 300673
Mental retardation, X-linked syndromic, Lubs type 300260
Mental retardation, X-linked, syndromic 13 300055
Rett syndrome 312750
Rett syndrome, preserved speech variant 312750
Autism susceptibility, X-linked 3 300496
MED12 Xq13.1 Lujan-Fryns syndrome 309520
Ohdo syndrome, X-linked 300895
Opitz-Kaveggia syndrome 305450
MEFV 16p13.3 Familial Mediterranean fever, AD 134610
Familial Mediterranean fever, AR 249100
MFSD8 4q28.2 Ceroid lipofuscinosis, neuronal, 7 610951
Macular dystrophy with central cone involvement 616170
MGAT2 14q21.3 Congenital disorder of glycosylation, type IIa 212066
MID1 Xp22.2 Opitz GBBB syndrome, type I 300000
MKS1 17q22 Bardet-Biedl syndrome 13 615990
Meckel syndrome 1 249000
MLC1 22q13.33 Megalencephalic leukoencephalopathy with subcortical cysts 604004
MMAA 4q31.21 Methylmalonic aciduria, vitamin B12-responsive 251100
MMAB 12q24.11 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis

of adenosylcobalamin, cblB complementation type

251110
MMACHC 1p34.1 Methylmalonic aciduria and homocystinuria, cblC type 277400
MOCS1 6p21.2 Molybdenum cofactor deficiency A 252150
MOCS2 5q11.2 Molybdenum cofactor deficiency B 252160
MOGS 2p13.1 Congenital disorder of glycosylation, type IIb 606056
MPDU1 17p13.1 Congenital disorder of glycosylation, type If 609180
MPI 15q24.1 Congenital disorder of glycosylation, type Ib 602579
MPL 1p34.2 Myelofibrosis with myeloid metaplasia, somatic 254450
Thrombocythemia 2 601977
Thrombocytopenia, congenital amegakaryocytic 604498
MPV17 2p23.3 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
MPZ 1q23.3 Charcot-Marie-Tooth disease, dominant intermediate D 607791
Charcot-Marie-Tooth disease, type 1B 118200
Charcot-Marie-Tooth disease, type 2I 607677
Charcot-Marie-Tooth disease, type 2J 607736
Dejerine-Sottas disease 145900
Neuropathy, congenital hypomyelinating 605253
Roussy-Levy syndrome 180800
MRPS16 10q22.2 Combined oxidative phosphorylation deficiency 2 610498
MRPS22 3q23 Combined oxidative phosphorylation deficiency 5 611719
MTM1 Xq28 Myotubular myopathy, X-linked 310400
MUT 6p12.3 Methylmalonic aciduria, mut(0) type 251000
MVK 12q24.11 Hyper-IgD syndrome 260920
Mevalonic aciduria 610377
Porokeratosis 3, disseminated superficial actinic 175900
MYD88 3p22.2 Macroglobulinemia, Waldenstrom, somatic 153600
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
MYO5A 15q21.2 Griscelli syndrome, type 1 214450
MYO7A 11q13.5 Deafness, autosomal dominant 11 601317
Deafness, autosomal recessive 2 600060
Usher syndrome, type 1B 276900
NAGLU 17q21.2 Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
NAGS 17q21.31 N-acetylglutamate synthase deficiency 237310
NBN 8q21.3 Aplastic anemia 609135
Leukemia, acute lymphoblastic 613065
Nijmegen breakage syndrome 251260
NDP Xp11.3 Exudative vitreoretinopathy 2, X-linked 305390
Norrie disease 310600
NDUFA1 Xq24 Mitochondrial complex I deficiency 252010
NDUFA7 19p13.3 Mitochondrial Complex 1 Deficiency (MT-C1D) 252010
NDUFAF 5q12.1 Leigh syndrome 256000
NDUFAF4 6q16.1 Mitochondrial complex I deficiency 252010
NDUFS3 11p11.2 Leigh syndrome due to mitochondrial complex I deficiency 256000
Mitochondrial complex I deficiency 252010
NDUFS4 5q11.2 Leigh syndrome 256000
Mitochondrial complex I deficiency 252010
NDUFS5 1p34.3 Mitochondrial complex I deficiency 252010
NDUFS6 5p15.33 Complex I, mitochondrial respiratory chain, deficiency of 252010
NDUFS7 19p13.3 Leigh syndrome 256000
NDUFS8 11q13.2 Leigh syndrome due to mitochondrial complex I deficiency 256000
NDUFV1 11q13.2 Mitochondrial complex I deficiency 252010
NEB 2q23.3 Nemaline myopathy 2, autosomal recessive 256030
NEU1 6p21.33 Sialidosis, type I 256550
Sialidosis, type II 256550
NEUROG3 10q22.1 Diarrhea 4, malabsorptive, congenital 610370
NHEJ1 2q35 Severe combined immunodeficiency with microcephaly, growth retardation,

and sensitivity to ionizing radiation

611291
NHLRC1 6p22.3 Epilepsy, progressive myoclonic 2B (Lafora) 254780
NHS Xp22.13 Cataract 40, X-linked 302200
Nance-Horan syndrome 302350
NLGN4X Xp22.32-p22.31 Mental retardation, X-linked 300495
Asperger syndrome susceptibility, X-linked 2 300497
Autism susceptibility, X-linked 2 300495
NPC1 18q11.2 Niemann-Pick disease, type C1 257220
Niemann-Pick disease, type D 257220
NPC2 14q24.3 Niemann-pick disease, type C2 607625
NPHP1 2q13 Joubert syndrome 4 609583
Nephronophthisis 1, juvenile 256100
Senior-Loken syndrome-1 266900
NPHP3 3q22.1 Meckel syndrome 7 267010
Nephronophthisis 3 604387
Renal-hepatic-pancreatic dysplasia 1 208540
NPHP4 1p36.31 Nephronophthisis 4 606966
Senior-Loken syndrome 4 606996
NPHS1 19q13.12 Nephrotic syndrome, type 1 256300
NPHS2 1q25.2 Nephrotic syndrome, type 2 600995
NR5A1 9q33.3 46XY sex reversal 3 612965
Adrenocortical insufficiency
Premature ovarian failure 7 612964
Spermatogenic failure 8 613957
NSD1 5q35.2-q35.3 Beckwith-Wiedemann syndrome 130650
Leukemia, acute myeloid 601626
Sotos syndrome 1 117550
NSUN2 5p15.31 Mental retardation, autosomal recessive 5 611091
NTRK1 1q23.1 Insensitivity to pain, congenital, with anhidrosis 256800
NUP62 19q13.33 Striatonigral degeneration, infantile 271930
NXF5 Xq22.1 Nuclear RNA export factor 5 300319
OCRL Xq25-q26 Dent disease 2 300555
Lowe syndrome 309000
OFD1 Xp22.2 Retinitis pigmentosa 23 300424
Joubert syndrome 10 300804
Orofaciodigital syndrome I 311200
Simpson-Golabi-Behmel syndrome, type 2 300209
OPA3 19q13.32 Optic atrophy 3 with cataract 165300
OPHN1 Xq12 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial

appearance

300486
ORAI1 12q24.31 Immunodeficiency 9 612782
Myopathy, tubular aggregate, 2 615883
OSTM1 6q21 Osteopetrosis, autosomal recessive 5 259720
OTC Xp11.4 Ornithine transcarbamylase deficiency 311250
PAH 12q23.2 Phenylketonuria 261600
PAK3 Xq23 Mental retardation, X-linked 30/47 300558
PANK2 20p13 HARP syndrome 607236
PC 11q13.2 Pyruvate carboxylase deficiency 266150
PCCA 13q32.3 Propionicacidemia 606054
PCCB 3q22.3 Propionicacidemia 606054
PCDH19 Xq22.1 Epileptic encephalopathy, early infantile, 9 300088
PDHA1 Xp22.12 Pyruvate dehydrogenase E1-alpha deficiency 312170
PDHX 11p13 Lacticacidemia due to PDX1 deficiency 245349
PDP1 8q22.1 Pyruvate dehydrogenase phosphatase deficiency 608782
PDSS1 10p12.1 Coenzyme Q10 deficiency, primary, 2 614651
PDSS2 6q21 Coenzyme Q10 deficiency, primary, 3 614652
PEX1 7q21.2 Peroxisome biogenesis disorder 1A (Zellweger) 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
PEX10 1p36.32 Peroxisome biogenesis disorder 6A (Zellweger) 614870
Peroxisome biogenesis disorder 6B 614871
PEX12 17q12 Peroxisome biogenesis disorder 3A (Zellweger 614859
Peroxisome biogenesis disorder 3B 266510
PEX13 2p16.1 Peroxisome biogenesis disorder 11A (Zellweger 614883
Peroxisome biogenesis disorder 11 B 614885
PEX26 22q11.21 Peroxisome biogenesis disorder 7A (Zellweger) 614872
Peroxisome biogenesis disorder 7B 614873
PEX5 3q26.33 Peroxisome biogenesis disorder 7B 611058
PEX7 6q23.3 Peroxisome biogenesis disorder 9B 614879
Rhizomelic chondrodysplasia punctata, type 1 215100
PKHD1 6p12.3-p12.2 Polycystic kidney and hepatic disease 263200
PKLR 1q22 Adenosine triphosphate, elevated, of erythrocytes 102900
Pyruvate kinase deficiency 266200
PLA2G6 22q13.1 Infantile neuroaxonal dystrophy 1 256600
Neurodegeneration with brain iron accumulation 2B 610217
Parkinson disease 14, autosomal recessive 612953
PLCE1 10q23.33 Nephrotic syndrome, type 3 610725
PLDN 15q21.1 Hermansky-pudlak syndrome 9 614171
PLEC 8q24.3 Epidermolysis bullosa simplex with pyloric atresia 612138
Epidermolysis bullosa simplex, Ogna type 131950
Muscular dystrophy with epidermolysis bullosa simplex 226670
Muscular dystrophy, limb-girdle, type 2Q 613723
PLEKHG5 1p36.31 Charcot-Marie-Tooth disease, recessive intermediate C 615376
Spinal muscular atrophy, distal, autosomal recessive, 4 611067
PLG 6q26 Dysplasminogenemia 217090
Plasminogen deficiency, type I 217090
PLOD1 1p36.22 Ehlers-Danlos syndrome, type VI 225400
PLP1 Xq22.2 Pelizaeus-Merzbacher disease 312080
Spastic paraplegia 2, X-linked 312920
PMM2 16p13.2 Congenital disorder of glycosylation, type Ia 212065
PMP22 17p12 Charcot-Marie-Tooth disease, type 1A 118220
Charcot-Marie-Tooth disease, type 1E 118300
Dejerine-Sottas disease 145900
Neuropathy, inflammatory demyelinating 139393
Neuropathy, recurrent, with pressure palsies 162500
Roussy-Levy syndrome 180800
PNPO 17q21.32 Pyridoxamine 5′-phosphate oxidase deficiency 610090
POLG 15q26.1 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Progressive external ophthalmoplegia, autosomal recessive 258450
POMGNT1 1p34.1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Muscular dystrophy-dystroglycanopathy (congenital with mental

retardation), type B, 3

613151
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
POMT1 9q34.13 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

anomalies), type A, 1

236670
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
POMT2 14q24.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
Muscular dystrophy-dystroglycanopathy (congenital with mental

retardation), type B, 2

613156
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
POR 7q11.23 Antley-Bixler syndrome with genital anomalies and disordered

steroidogenesis

201750
Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
POU1F1 3p11.2 Pituitary hormone deficiency, combined, 1 613038
PPT1 1p34.2 Ceroid lipofuscinosis, neuronal, 1 256730
PQBP1 Xp11.23 Renpenning syndrome 309500
PRF1 10q22.1 Hemophagocytic lymphohistiocytosis, familial, 2 603553
Lymphoma, non-Hodgkin 605027
PROP1 5q35.3 Pituitary hormone deficiency, combined, 2 262600
PRPS1 Xq22.3 Arts syndrome 301835
Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
Deafness, X-linked 1 304500
Gout, PRPS-related 300661
Phosphoribosylpyrophosphate synthetase superactivity 300661
PRSS12 4q26 Mental retardation, autosomal recessive 1 249500
PRX 19q13.2 Charcot-Marie-Tooth disease, type 4F 614895
Dejerine-Sottas disease 145900
PSAP 10q22.1 Combined SAP deficiency 611721
Gaucher disease, atypical 610539
Krabbe disease, atypical 611722
Metachromatic leukodystrophy due to SAP-b deficiency 249900
PTEN 10q23.31 Bannayan-Riley-Ruvalcaba syndrome 153480
Cowden syndrome 1 158350
Lhermitte-Duclos syndrome 158350
Macrocephaly/autism syndrome 605309
VATER association with macrocephaly and ventriculomegaly 276950
PTH1R 3p21.31 Chondrodysplasia, Blomstrand type 215045
Eiken syndrome 600002
Failure of tooth eruption, primary 125350
Metaphyseal chondrodysplasia, Murk Jansen type 156400
PYGM 11q13.1 McArdle disease 232600
RAB23 6p11.2 Carpenter syndrome 201000
RAB27A 15q21.3 Griscelli syndrome, type 2 607624
RAB39B Xq28 Waisman syndrome 311510
Mental retardation, X-linked 72 300271
RAB3GAP1 2q21.3 Warburg micro syndrome 1 600118
RAB3GAP2 1q41 Martsolf syndrome 212720
Warburg micro syndrome 2 614225
RAG1 11p12 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion.. 609889
Combined cellular and humoral immune defects with granulomas 233650
Omenn syndrome 603554
Severe combined immunodeficiency, B cell-negative 601457
RAG2 11p12 Combined cellular and humoral immune defects with granulomas 233650
Omenn syndrome 603554
Severe combined immunodeficiency, B cell-negative 601457
RAPSN 11p11.2 Fetal akinesia deformation sequence 208150
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
RELN 7q22.1 Lissencephaly 2 (Norman-Roberts type) 257320
Epilepsy, familial temporal lobe, 7 616436
RFT1 3p21.1 Congenital disorder of glycosylation, type In 612015
RMRP 9p13.3 Anauxetic dysplasia 607095
Cartilage-hair hypoplasia 250250
Metaphyseal dysplasia without hypotrichosis 250460
RNASEH2A 19p13.2 Aicardi-Goutieres syndrome 4 610333
RNASEH2B 13q14.3 Aicardi-Goutieres syndrome 2 610181
RNASEH2C 11q13.1 Aicardi-Goutieres syndrome 3 610329
RPGRIP1L 16q12.2 COACH syndrome 216360
Joubert syndrome 7 611560
Meckel syndrome 5 611561
RPL10 Xq28 Autism, susceptibility to, X-linked 5 300847
RPS6KA3 Xp22.12 Coffin-Lowry syndrome 303600
Mental retardation, X-linked 19 300844
RRM2B 8q22.3 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with

renal tubulopathy)

612075
Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
SACS 13q12.12 Spastic ataxia, Charlevoix-Saguenay type 270550
SAMHD1 20q11.23 Aicardi-Goutieres syndrome 5 612952
Chilblain lupus 2 614415
SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome 260400
SC5DL 11q23.3 Lathosterolosis 607330
SCNN1A 12p13.31 Bronchiectasis with or without elevated sweat chloride 2 613021
Pseudohypoaldosteronism, type I 264350
SCNN1B 16p12.2 Bronchiectasis with or without elevated sweat chloride 1 211400
Liddle syndrome 177200
Pseudohypoaldosteronism, type I 264350
SCNN1G 16p12.2 Bronchiectasis with or without elevated sweat chloride 3 613071
Liddle syndrome 177200
Pseudohypoaldosteronism, type I 264350
SCO1 17p13.1 Hepatic failure, early onset, and neurologic disorder 603644
SCO2 22q13.33 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

deficiency 1

604377
Myopia 6 608908
SEPN1 1p36.11 Muscular dystrophy, rigid spine, 1 602771
Myopathy, congenital, with fiber-type disproportion 255310
SFTPB 2p11.2 Surfactant metabolism dysfunction, pulmonary, 1 265120
SFTPC 8p21.3 Surfactant metabolism dysfunction, pulmonary, 2 610913
SGSH 17q25.3 Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
SH2D1A Xq25 Lymphoproliferative syndrome, X-linked, 1 308240
SHROOM4 Xp11.22 Stocco dos Santos X-linked mental retardation syndrome 300434
SIL1 5q31.2 Marinesco-Sjogren syndrome 248800
SLC12A1 15q21.1 Bartter syndrome, type 1 601678
SLC12A6 15q14 Agenesis of the corpus callosum with peripheral neuropathy 218000
SLC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 300523
SLC17A5 6q13 Salla disease 604369
Sialic acid storage disorder, infantile 269920
SLC22A5 5q31.1 Carnitine deficiency, systemic primary 212140
SLC25A15 13q14.11 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970
SLC25A20 3p21.31 Carnitine-acylcarnitine translocase deficiency 212138
SLC25A22 11p15.5 Epileptic encephalopathy, early infantile, 3 609304
SLC26A2 5q32 Achondrogenesis Ib 600972
Atelosteogenesis II 256050
De la Chapelle dysplasia 256050
Diastrophic dysplasia 222600
Diastrophic dysplasia, broad bone-platyspondylic variant 222600
Epiphyseal dysplasia, multiple, 4 226900
SLC35A1 6q15 Congenital disorder of glycosylation, type IIf 603585
SLC35C1 11p11.2 Congenital disorder of glycosylation, type IIc 266265
SLC35D1 1p31.3 Schneckenbecken dysplasia 269250
SLC37A4 11q23.3 Glycogen storage disease Ib 232220
Glycogen storage disease Ic 232240
SLC4A11 20p13 Corneal dystrophy, Fuchs endothelial, 4 613268
Corneal endothelial dystrophy 2, autosomal recessive 217700
Corneal endothelial dystrophy and perceptive deafness 217400
SLC6A8 Xq28 Cerebral creatine deficiency syndrome 1 300352
SLC9A6 Xq26.3 Mental retardation, X-linked syndromic, Christianson type 300243
SMN1 5q13.2 Spinal muscular atrophy-1 253300
Spinal muscular atrophy-2 253550
Spinal muscular atrophy-3 253400
Spinal muscular atrophy-4 271150
SMPD1 11p15.4 Niemann-Pick disease, type A 257200
Niemann-Pick disease, type B 607616
SMS Xp22.11 Mental retardation, X-linked, Snyder-Robinson type 309583
SNAP29 22q11.21 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma 609528
SOX3 Xq27.1 Mental retardation, X-linked, with isolated growth hormone deficiency 300123
Panhypopituitarism, X-linked 312000
SP110 2q37.1 Hepatic venoocclusive disease with immunodeficiency 235550
SRD5A2 2p23.1 Pseudovaginal perineoscrotal hypospadias 264600
SRD5A3 4q12 Congenital disorder of glycosylation, type Iq 612379
Kahrizi syndrome 612713
ST3GAL3 1p34.1 Epileptic encephalopathy, early infantile, 15 615006
Mental retardation, autosomal recessive 12 611090
ST3GAL5 2p11.2 Amish infantile epilepsy syndrome 609056
STAR 8p11.23 Lipoid adrenal hyperplasia 201710
STAT1 2q32.2 Immunodeficiency 31B, mycobacterial and viral infections, autosomal reces. 613796
STIM1 11p15.4 Immunodeficiency 10 612783
Myopathy, tubular aggregate, 1 160565
Stormorken syndrome 185070
STRA6 15q24.1 Microphthalmia, isolated, with coloboma 8 601186
Microphthalmia, syndromic 9 601186
STX11 6q24.2 Hemophagocytic lymphohistiocytosis, familial, 4 603552
STXBP2 19p13.2 Hemophagocytic lymphohistiocytosis, familial, 5 613101
SUCLA2 13q14.2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or

without methylmalonic aciduria)

612073
SUCLG1 2p11.2 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 245400
SUOX 12q13.2 Sulfite oxidase deficiency 272300
SURF1 9q34.2 Leigh syndrome, due to COX deficiency 256000
SYP Xp11.23 Mental retardation, X-linked 96 300802
TAT 16q22.2 Tyrosinemia, type II 276600
TAZ Xq28 Barth syndrome 302060
TBCE 1q42.3 Hypoparathyroidism-retardation-dysmorphism syndrome 241410
Kenny-Caffey syndrome-1 244460
TCF4 18q21.2 Pitt-Hopkins syndrome 610954
TCIRG1 11q13.2 Osteopetrosis, autosomal recessive 1 259700
TGM1 14q12 Ichthyosis, congenital, autosomal recessive 1 242300
TH 11p15.5 Segawa syndrome, recessive 605407
TIMM8A Xq22.1 Deafness, X-linked 1, progressive 300066
Jensen syndrome 311150
Mohr-Tranebjaerg syndrome 304700
TK2 16q21 Mitochondrial DNA depletion syndrome 2 (myopathic type) 609560
TLR3 4q35.1 Herpes simplex encephalitis, susceptibility to, 2 613002
HIV1 infection, resistance to 609423
TMEM67 8q22.1 COACH syndrome 216360
Joubert syndrome 6 610688
Meckel syndrome 3 607361
Nephronophthisis 11 613550
Bardet-Biedl syndrome 14, modifier of 209900
TNFRSF11B 8q24.12 Paget disease of bone 5, juvenile-onset 239000
TPP1 11p15.4 Ceroid lipofuscinosis, neuronal, 2 204500
Spinocerebellar ataxia, autosomal recessive 7 609270
TRAPPC9 8q24.3 Mental retardation, autosomal recessive 13 613192
TREX1 3p21.31 Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Chilblain lupus 610448
Vasculopathy, retinal, with cerebral leukodystrophy 192315
Systemic lupus erythematosus, susceptibility to 152700
TRIM37 17q22 Mulibrey nanism 253250
TSEN54 17q25.1 Pontocerebellar hypoplasia type 5 610204
Pontocerebellar hypoplasia type 2A 277470
Pontocerebellar hypoplasia type 4 225753
TSFM 12q14.1 Combined oxidative phosphorylation deficiency 3 610505
TSHB 1p13.2 Hypothryoidism, congenital, nongoitrous 4 275100
TSPYL1 6q22.1 Sudden infant death with dysgenesis of the testes syndrome 608800
TTPA 8q12.3 Ataxia with isolated vitamin E deficiency 277460
TUBA1A 12q13.12 Lissencephaly 3 611603
TUFM 16p11.2 Combined oxidative phosphorylation deficiency 4 610678
TUSC3 8p22 Mental retardation, autosomal recessive 7 611093
TYK2 19p13.2 Immunodeficiency 35 611521
TYMP 22q13.33 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
UBA1 Xp11.23 Spinal muscular atrophy, X-linked 2, infantile 301830
UBE2A Xq24 Mental retardation, X-linked syndromic, Nascimento-type 300860
UBE3A 15q11.2 Angelman syndrome 105830
UBR1 15q15.2 Johanson-Blizzard syndrome 243800
UNC13D 17q25.1 Hemophagocytic lymphohistiocytosis, familial, 3 608898
UNC93B1 11q13.2 Herpes simplex encephalitis, susceptibility to, 1 610551
UPF3B Xq24 Mental retardation, X-linked, syndromic 14 300676
UQCRB 8q22.1 Mitochondrial complex III deficiency, nuclear type 3 615158
UQCRQ 5q31.1 Mitochondrial complex III deficiency, nuclear type 4 615159
UROS 10q26.1-q26.2 Porphyria, congenital erythropoietic 263700
USH1C 11p15.1 Deafness, autosomal recessive 18A 602092
Usher syndrome, type 1C 276904
USH1G 17q25.1 Usher syndrome, type 1G 606943
USH2A 1q41 Retinitis pigmentosa 39 613809
Usher syndrome, type 2A 276901
VDR 12q13.11 Osteoporosis, involutional 166710
Rickets, vitamin D-resistant, type IIA 277440
VIPAR 14q24.3 Arthrogryposis, renal dysfunction, and cholestasis 2 613404
VLDLR 9p24.2 Cerebellar hypoplasia and mental retardation with or without quadrupedal

locomotion 1

224050
VPS13B 8q22.2 Cohen syndrome 216550
VPS33B 15q26.1 Arthrogryposis, renal dysfunction, and cholestasis 1 208085
WAS Xp11.23 Neutropenia, severe congenital, X-linked 300299
Thrombocytopenia, X-linked 313900
Thrombocytopenia, X-linked, intermittent 313900
Wiskott-Aldrich syndrome 301000
WNT10A 2q35 Odontoonychodermal dysplasia 257980
Schopf-Schulz-Passarge syndrome 224750
Tooth agenesis, selective, 4 150400
WNT3 17q21.31 Tetra-amelia syndrome 273395
WNT7A 3p25.1 Fuhrmann syndrome 228930
Ulna and fibula, absence of, with severe limb deficiency 276820
XIAP Xq25 Lymphoproliferative syndrome, X-linked, 2 300635
XPA 9q22.33 Xeroderma pigmentosum, group A 278700
XPC 3p25.1 Xeroderma pigmentosum, group C 278720
ZDHHC9 Xq26.1 Mental retardation, X-linked syndromic, Raymond type 300799
ZEB2 2q22.3 Mowat-Wilson syndrome 235730
ZIC3 Xq26.3 Congenital heart defects, nonsyndromic, 1, X-linked 306955
Heterotaxy, visceral, 1, X-linked 306955
VACTERL association, X-linked 314390
ZMPSTE24 1p34.2 Mandibuloacral dysplasia with type B lipodystrophy 608612
Restrictive dermopathy, lethal 275210
ZNF41 Xp11.23 Zinc Finger Protein 41 314995
ZNF469 16q24.2 Brittle cornea syndrome 1 229200
ZNF674 Xp11.3-p11.2 Zinc Finger Protein 674 300573
ZNF711 Xq21.1 Mental retardation, X-linked 97 300803
COL1A1 17q21.33 Caffey disease 114000
Ehlers-Danlos syndrome, classic 130000
Ehlers-Danlos syndrome, type VIIA 130060
Osteogenesis imperfecta, type I 166200
Osteogenesis imperfecta, type II 166210
Osteogenesis imperfecta, type III 259420
Osteogenesis imperfecta, type IV 166220
Bone mineral density variation QTL, osteoporosis 166710
COL1A2 7q21.3 Ehlers-Danlos syndrome, cardiac valvular form 225320
Ehlers-Danlos syndrome, type VIIB 130060
Osteogenesis imperfecta, type II 166210
Osteogenesis imperfecta, type III 259420
Osteogenesis imperfecta, type IV 166220
Osteoporosis, postmenopausal 166710
COL6A1 21q22.3 Bethlem myopathy 158810
Ullrich congenital muscular dystrophy 254090
COL6A2 21q22.3 Myosclerosis, congenital 255600
Bethlem myopathy 158810
Ullrich congenital muscular dystrophy 254090
COL6A3 2q37.3 Bethlem myopathy 158810
Dystonia 27 616411
Ullrich congenital muscular dystrophy 254090
DOK7 4p16.3 Fetal akinesia deformation sequence 208150
Myasthenic syndrome, congenital, 10 254300
G6PC 17q21.31 Glycogen storage disease Ia 232200
HIBCH 2q32.2 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
LMNA 1q22 Cardiomyopathy, dilated, 1A 115200
Charcot-Marie-Tooth disease, type 2B1 605588
Emery-Dreifuss muscular dystrophy 2, AD 181350
Emery-Dreifuss muscular dystrophy 3, AR 181350
Heart-hand syndrome, Slovenian type 610140
Hutchinson-Gilford progeria 176670
Lipodystrophy, familial partial, 2 151660
Malouf syndrome 212112
Mandibuloacral dysplasia 248370
Muscular dystrophy, congenital 613205
Muscular dystrophy, limb-girdle, type 1B 159001
Restrictive dermopathy, lethal 275210
OXCT1 5p13.1 Succinyl CoA:3-oxoacid CoA transferase deficiency 245050
UBE3A 15q11.2 Angelman syndrome 105830

 

Las 600 enfermedades recesivas que detecta el Test de Compatibilidad Genética (TCG)

Si desea puede concertar una

Las 600 enfermedades recesivas que detecta el Test de Compatibilidad Genética (TCG)
Valoración