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UMC Utrecht

Afdeling Medische Genetica
Sectie Genoomdiagnostiek
Centrale Balie CDL
Huispost G.03.3.30
Heidelberglaan 100
3584 CX Utrecht

Telefoon:088 755 4090
Fax:088 755 5034



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naam gen details aandoening (OMIM)
Surfactant metabolism dysfunction type 3, ABCA3 ABCA3 610921
Cantú Syndrome, ABCC9 ABCC9 239850
Congenital disorder of glycosylation type 1p (CDG1p), ALG11 ALG11 613661
Susceptibility to Breast cancer ATM 114480
Ataxia-telangiectasia ATM 208900
Oculofaciocardiodental Syndrome, BCOR 300166
Biotinidase deficiency BTD 253260
Cortical dysplasia-focal epilepsy syndrome (CDFE), CNTNAP2 CNTNAP2 610042
Susceptibility to Prostate cancer CDH1 176807
Early infantile epileptic encephalopathy type 2 (EIEE2), CDKL5 CDKL5 300203
Rett Syndrome, atypical, CDKL5 CDKL5 300203
Breast Cancer, Hereditary, CHEK2 CHEK2 114480
Congenital disorder of glycosylation type 3, (CDG3), COG6 COG6 614576
Progressive Myoclonic Epilepsy Type 1 (EPM1): CSTB gene CSTB 601145
Unverricht-Lundborg disease(EPM1) CSTB 254800
Glomerulopathy with fibronectin deposits 2 FN1 601894
Alveolar capillary dysplasia with misalignment of pulmonary veins FOXF1 265380
Rett syndrome, congenital variant FOXG1 613454
Glucose-6-phosphate dehydrogenase deficiency, G6PD G6PD 300908
Hypoparathyroidism, Sensorineural deafness and renal disease (HDR), GATA3 GATA3 146255
Glycerol kinase deficiency GK 307030
Hemophilia A (HEMA) F8 306700
Hemochromatosis (HH) HFE 235200
Lesch-Nyhan syndrome, HPRT1 HPRT1 300322
Tyrosinemia type 1, FAH FAH 276700
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ITGA3 614748
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) ACADM 201450
Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 131100
Multiple Endocrine Neoplasia Type 2A (MEN2A) RET 171400
Metachromatic Leukodystrophia (MLD) ARSA 250100
Lynch syndrome (formerly known as HNPCC), MLH1 MLH1 609310
Lynch syndrome (formerly known as HNPCC), MSH2 MSH2 120435
Lynch syndrome (formerly known as HNPCC), MSH6 MSH6 600678
Microvillus inclusion disease (MVID) of Diarrhea 2, with microvillus atrophy (DIAR2), MYO5B MYO5B 251850
Pitt Hopkins-like Syndrome 2, NRXN1 NRXN1 600565
Hypertension and brachydactyly syndrome / Bilginturan syndrome, PDE3A PDE3A 112410
Pyruvate Kinase Deficiency (PK) PKLR 266200
Phenylketonuria Type 1. Phenylalanin Hydroxylase Deficiency (PKU) PAH 261600
Congenital disorder of glycosylation type Ia, (CDG1a), PMM2 PMM2 212065
Pompe Disease (POMPE) GAA 232300
Cowden syndrome 1 PTEN 601728
Phenylketonuria Type 3. 6-PyruvoylTetrahydroPterin Synthase Deficiency (PTPS) PTS 261640
Rett Syndrome (RETT) MECP2 312750
Cleidocranial Dysplasia, RUNX2 RUNX2 119600
Congenital myopathy 1B, autosomal recessive RYR1 180901
Gitelman syndrome, SLC12A3 SLC12A3 263800
Familial Hyperinsulinemic Hypoglycemia type 7 (HHF7), SLC16A1 SLC16A1 610021
Hartnup disorder, SLC6A19 SLC6A19 234500
Dravet Syndrome (SCN1A) SCN1A 607208
Genetic Epilepsy with Febrile Seizures plus (GEFS+), SCN1A SCN1A 182389
Brugada syndrome type 1/ Long QT syndrome type 3, SCN5A SCN5A 601144
Pancreatic, Breast & Hepatocellular cancer, somatic / Adrenocaortical carcinoma pediatric TP53 191170
Currarino syndrome, MNX1 MNX1 (HLXB9) 176450
Hereditary Transthyretin-related Amyloidosis (TTR) TTR 105210
Gilbert syndrome, UGT1A1 UGT1A1 143500
Von Hippel-Lindau Disease (VHL) VHL 193300
Cohen syndrome VPS13B 216550
von Willebrand disease, type 1-3 VWF 613160
Wilson Disease, ATP7B ATP7B 277900
Fuhrmann syndrome, WNT7A WNT7A 228930
Fabry Disease Alpha-galactosidase A deficiency (FABRY) GLA 301500