|
Disease |
OMIM |
UKGTN service* |
|
Allan Herndon Dudley (SLC16A2/MCT8) |
300523 |
YES |
|
Androgen Insensitivity syndrome (AR) |
300068 |
YES |
|
Angelman syndrome |
105830 |
|
|
Breast/Ovarian cancer (BRCA1&2) |
600185 |
|
|
Cystic fibrosis (CFTR) |
219700 |
|
|
Distal Renal Tubular Acidosis, autosomal dominant (SLC4A1) |
179800 |
YES |
|
Donohue syndrome (INSR) |
246200 |
|
|
Dentatorubral-Pallidoluysian atrophy (DRPLA) |
125370 |
|
|
Duchenne/Becker muscular dystrophy (dystrophin) |
310200 |
|
|
Dysalbuminaemic hyperthyroxinaemia, familial (albumin, ALB) |
103600 |
|
|
Emery Dreifuss muscular dystrophy, X-linked (EDMD) |
310300 |
YES |
|
Familial adenomatous polyposis coli (APC) |
175100 |
|
|
Familial juvenile hyperuricemic nephropathy (UMOD) |
162000 |
YES |
|
Focal & segmental Glomerulosclerosis (ACTN4) |
603278 |
|
|
Fragile X disease (FMR1) |
309550 |
|
|
Fragile X
associated tremor ataxia (FMR1) |
300623 |
|
|
Friedreich ataxia (FXN) |
229300 |
|
|
Frontotemporal dementia with Parkinsonism-17 (MAPT/GRN) |
600274 |
YES |
|
Gitelman syndrome (SLC12A3) |
263800 |
YES |
|
Glucorticoid-remediable aldosteronism (CYP11B1/2) |
103900 |
|
|
Gonadal dysgenesis (SRY) |
480000 |
YES |
|
Haemochromatosis (HFE) |
235200 |
|
|
Hereditary fructose intolerance (Aldolase B) |
229600 |
|
|
Hereditary Non Polyposis Colon Cancer (MSH2 and MLH1) |
114500 |
|
|
Huntington
disease |
143100 |
|
|
Incontinentia Pigmenti type II (NEMO) |
308300 |
YES |
|
Liddle syndrome
(SCNN1B, SCNN1G) |
177200 |
YES |
|
Medium chain acyl CoA dehydrogenase deficiency (MCADD) |
607008 |
|
|
Medullary cystic kidney disease (UMOD) |
603860 |
YES |
|
Myotonic dystrophy type 1 (DM1) |
160900 |
|
|
Polycystic kidney disease, AD
(PKD2) |
173910 |
|
|
Prader Willi syndrome |
105830 |
|
|
Rabson Mendenhall syndrome (INSR) |
262190 |
|
|
Retinoschisis, X-linked (RS1) |
312700 |
YES |
|
Spino and bulbar muscular atrophy, X linked (SMAX1) |
313200 |
|
|
Spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17) |
164400, 183090, 109150, 183086, 164500, 607136, |
|
|
Stickler syndrome (COL2A1, COL11A1, COL11A2) |
108300, 604841, 184840 |
|
|
Thyroid hormone resistance (THRbeta) |
190160 |
|
|
Tuberous sclerosis (TSC1 and TSC2) |
191100, 191092 |
YES |
|
Von Hippel Lindau disease |
193300 |
YES |
|
|
|
|
|
|
|
|
|
|
|
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|
|
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