|
Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
|
17-beta hydroxysteroid dehydrogenase III deficiency |
264300 |
PENDING |
|
Allan Herndon Dudley (SLC16A2/MCT8) |
300523 |
APPROVED |
|
Alzheimer disease (APP) |
104300 |
- |
|
Androgen Insensitivity syndrome (AR) |
300068 |
APPROVED |
|
Angelman syndrome |
105830 |
APPROVED |
|
Antithrombin III deficiency |
613118 |
PENDING |
|
Bartter syndrome type 3 |
607364 |
APPROVED |
|
Breast/Ovarian cancer (BRCA1&2) |
600185 |
APPROVED |
|
Congenital indifference to Pain (SCN9A) |
243000 |
PENDING |
|
Congenital indifference to Pain with Anhidrosis (NGF, TRKA) |
256800/608654 |
PENDING |
|
Cystic fibrosis (CFTR) |
219700 |
APPROVED |
|
Distal Renal Tubular Acidosis, autosomal dominant (SLC4A1) |
179800 |
APPROVED |
|
Donohue syndrome (INSR) |
246200 |
APPROVED |
|
Dentatorubral-Pallidoluysian atrophy (DRPLA) |
125370 |
APPROVED |
|
Dysalbuminaemic hyperthyroxinaemia, familial (albumin, ALB) |
103600 |
APPROVED |
|
Emery Dreifuss muscular dystrophy, X-linked (EDMD) |
310300 |
APPROVED |
|
Factor V Leiden (FVL)
R534Q (p.R506Q) mutation |
188055 |
PENDING |
|
Factor VII, X and XIII deficiencies |
227500, 227600, 613225 |
PENDING |
|
Factor XI deficiency (FXI) |
612416 |
PENDING |
|
Familial juvenile hyperuricemic nephropathy (UMOD) |
162000 |
APPROVED |
|
FG syndrome |
305450 |
PENDING |
|
Focal & segmental Glomerulosclerosis (ACTN4) |
603278 |
N/A |
|
Fragile X disease (FMR1) |
309550 |
APPROVED |
|
Fragile X associated tremor ataxia (FMR1) |
300623 |
N/A |
|
Friedreich ataxia (FXN) |
229300 |
APPROVED |
|
Frontotemporal dementia with Parkinsonism-17 (MAPT/GRN) |
600274 |
APPROVED |
|
Gitelman syndrome (SLC12A3) |
263800 |
APPROVED |
|
Glucorticoid-remediable aldosteronism (CYP11B1/2) |
103900 |
APPROVED |
|
Gonadal dysgenesis (SRY) |
480000 |
APPROVED |
|
Haemochromatosis type 1 (HFE) |
235200 |
N/A |
|
Haemochromatosis, juvenile type 2 (HFE2) |
602390 |
APPROVED |
|
Haemochromatosis type 4 (HFE4) |
606069 |
APPROVED |
|
Hereditary fructose intolerance (Aldolase B) |
229600 |
APPROVED |
|
Hereditary Non Polyposis Colon Cancer (MLH1, MSH2 and MSH6) |
114500 |
APPROVED |
|
Huntington disease |
143100 |
APPROVED |
|
Incontinentia Pigmenti type II (NEMO) |
308300 |
APPROVED |
|
IRAK4 deficiency |
607676 |
APPROVED |
|
Liddle syndrome
(SCNN1B, SCNN1G) |
177200 |
APPROVED |
|
Medium chain acyl CoA dehydrogenase deficiency (MCADD) |
607008 |
N/A |
|
Medullary cystic kidney disease (UMOD) |
603860 |
APPROVED |
|
Mendelian susceptibility to mycobacterial disease (IFNGR1,
IFNGR2, IL12RB1, IL12B, IKBKG, TYK2) |
209950 |
PENDING |
|
Microcephaly, autosomal recessive (MCPH5) ASPM |
608716 |
APPROVED |
|
Polycystic kidney disease, AD
(PKD2) |
173910 |
APPROVED |
|
Prader Willi syndrome |
105830 |
APPROVED |
|
Prothrombin gene
(PTG)
*96G>A (c.G20210A)
mutation |
176930 |
PENDING |
|
Rabson Mendenhall syndrome (INSR) |
262190 |
APPROVED |
|
Retinoschisis, X-linked (RS1) |
312700 |
APPROVED |
|
Spino and bulbar muscular atrophy, X linked (SMAX1) |
313200 |
APPROVED |
|
Spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17) |
164400, 183090, 109150, 183086, 164500, 607136, |
APPROVED |
|
Steroid 5-alpha-reductase deficiency |
611715 |
PENDING |
|
Stickler syndrome (COL2A1, COL11A1, COL11A2) |
108300, 604841, 184840 |
APPROVED |
|
Thyroid hormone resistance (THRbeta) |
190160 |
APPROVED |
|
Tuberous sclerosis (TSC1 and TSC2) |
191100, 191092 |
APPROVED |
|
Type A Insulin Resistance |
610549 |
APPROVED |
|
Von Hippel Lindau disease |
193300 |
APPROVED |
|
Von Willebrand disease (vWD) |
193400 |
PENDING |
|
|
|
|