|
Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
|
17-beta hydroxysteroid dehydrogenase III deficiency |
264300 |
APPROVED |
|
Achondroplasia type 2 |
100800 |
PENDING |
|
Allan Herndon Dudley (SLC16A2/MCT8) |
300523 |
APPROVED |
|
Alzheimer disease type 1 (APP) |
104300 |
PENDING |
|
Androgen Insensitivity syndrome (AR) |
300068 |
APPROVED |
|
Angelman syndrome |
105830 |
APPROVED |
|
Antithrombin III deficiency |
613118 |
N/A |
|
Bartter syndrome type 3 |
607364 |
APPROVED |
|
Breast/Ovarian cancer (BRCA1&2) |
600185 |
APPROVED |
|
Collagenopathies, type II (COL2A1) |
|
N/A |
|
Congenital indifference to Pain (CIPA) |
243000 |
APPROVED |
|
Congenital indifference to Pain with Anhidrosis (NGF, TRKA) |
256800/608654 |
APPROVED |
|
Cystic fibrosis (CFTR) |
219700 |
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 |
N/A |
|
Factor VII deficiency (F7) |
227500 |
N/A |
|
Factor VIII deficiency (Haemophilia A) |
306700 |
N/A |
|
Factor X deficiency (F10) |
227600 |
N/A |
|
Factor XI deficiency (F11) |
612416 |
N/A |
|
Factor XIII deficiency (F13A1) |
613225 |
N/A |
|
Familial juvenile hyperuricemic nephropathy (UMOD) |
162000 |
APPROVED |
|
FG syndrome (Opitz Kaveggia) |
305450 |
APPROVED |
|
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) |
600274 |
APPROVED |
|
Gitelman syndrome (SLC12A3) |
263800 |
APPROVED |
|
Glucorticoid-remediable aldosteronism (CYP11B1/2) |
103900 |
APPROVED |
|
Gonadal dysgenesis (SRY) |
480000 |
APPROVED |
|
GRN-related Frontotemporal dementia |
607485 |
APPROVED |
|
Haemochromatosis type 1 (HFE) |
235200 |
N/A |
|
Haemochromatosis, juvenile type 2 (HFE2A and HFE2B) |
602390 |
APPROVED |
|
Haemochromatosis type 4 (SLC40A1) |
606069 |
APPROVED |
|
Hereditary fructose intolerance (Aldolase B) |
229600 |
APPROVED |
|
Hereditary Non Polyposis Colon Cancer (MLH1, MSH2 and MSH6) |
114500 |
APPROVED |
|
Hereditary sensory and autonomic neuropathy type IV (SCN9A) |
256800 |
APPROVED |
|
Hereditary sensory and autonomic neuropathy type V (NGFB) |
608654 |
APPROVED |
|
Huntington disease |
143100 |
APPROVED |
|
Hypothyroidism, congenital, non-goitrous, 1 (TSHR) |
275200 |
APPROVED |
|
Incontinentia Pigmenti type II (NEMO) |
308300 |
APPROVED |
|
IRAK4 deficiency |
607676 |
APPROVED |
|
Kniest dysplasia |
156550 |
PENDING |
|
Liddle syndrome
(Pseudoaldosteronism)
(SCNN1B, SCNN1G) |
177200 |
APPROVED |
|
Medullary cystic kidney disease (UMOD) |
603860 |
APPROVED |
|
Mendelian susceptibility to mycobacterial disease (IFNGR1,
IFNGR2, IL12RB1, IL12B, IKBKG, TYK2) |
209950 |
APPROVED |
|
Microcephaly, autosomal recessive (MCPH2) WDR62 |
600176 |
PENDING |
|
Microcephaly, autosomal recessive (MCPH5) ASPM |
608716 |
APPROVED |
|
Myotonic dystrophy type 1 |
160900 |
APPROVED |
|
Polycystic kidney disease, AD
(PKD2) |
173910 |
APPROVED |
|
Prader Willi syndrome |
105830 |
APPROVED |
|
Primary
Erythermalgia (SCN9A) |
133020 |
APPROVED |
|
Prothrombin gene
(PTG)
*96G>A (c.G20210A)
mutation |
176930 |
N/A |
|
Rabson Mendenhall syndrome (INSR) |
262190 |
APPROVED |
|
Renal Tubular Acidosis, distal, autosomal recessive
(ATP6V1B1/ATP6V0A4) |
602722 |
APPROVED |
|
Renal Tubular Acidosis, distal ,autosomal dominant (SLC4A1) |
179800 |
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 |
|
Spondyloepiphyseal dysplasia congenital (SEDC) |
108300 |
PENDING |
|
Steroid 5-alpha-reductase deficiency |
611715 |
APPROVED |
|
Stickler syndrome type 1, COL2A1 (NCG funded) |
108300 |
APPROVED |
|
Stickler syndrome type 2, COL11A1 (NCG funded) |
604841 |
APPROVED |
|
Stickler syndrome type 3, COL11A2 |
184840 |
APPROVED |
|
Thyroid hormone resistance (THRbeta) |
190160 |
APPROVED |
|
Tuberous sclerosis (TSC1 and TSC2) |
191100, 191092 |
APPROVED |
|
Type A Insulin Resistance |
610549 |
APPROVED |
|
Uromodulin nephropathy |
191845 |
APPROVED |
|
Von Hippel Lindau disease |
193300 |
APPROVED |
|
Von Willebrand disease (vWD) types 1-3 |
193400 |
N/A |
|
|
|
|