|
Disease |
OMIM |
UKGTN service* |
|
Autosomal
Dominant Polycystic Kidney Disease (types 1 and
2) - Adult (ADPKD)
Linkage only |
601313,
173910 |
Approved |
|
Aristaless
Related Homeobox – X-linked (ARX) |
300432,
308350 |
Approved |
|
Autosomal
Recessive Polycystic Kidney disease, Infantile
(linkage and mutation screening) (ARPKD) |
263200 |
Approved |
|
Clouston’s
Disease |
129500 |
Pending |
|
Cystic
Fibrosis (CF) |
219700 |
Approved |
|
Deafness,
non-syndromic sensorineural hearing loss; DFNB1
(GJB2 / GJB6) |
220290 |
Approved |
|
Duchenne / Becker Muscular Dystrophy (DMD /
BMD) |
310200
300376 |
Approved |
|
Ectodermal
Dysplasia - Anhydrotic (AR, AD, X-linked) |
305100, 224900,
129490 |
Approved |
|
Facioscapulohumeral Disease (FSHD) |
158900 |
Approved |
|
Familial Adenomatous Polyposis Coli (FAP) |
175100 |
Approved |
|
Familial breast/ovarian
cancer |
114480 |
Approved |
|
Fragile
X (A) disease |
309550 |
Approved |
|
Fragile X
(E) disease |
309548 |
Approved |
|
Friedreich’s
ataxia (FA) |
229300 |
Approved |
|
Gastrointestinal
Stromal Tumour – prediction of
prognosis/response to Imanitib (Glivec) (GIST)
(KIT & PDGFRA genes) |
606764, 164920,
173490 |
N/A |
|
Hereditary Non-polyposis
Colorectal Cancer (HNPCC), Lynch Syndrome |
120435, 120436,
158320 |
Approved |
|
Huntington’s
disease (HD) |
143100 |
Approved |
|
Infantile spasms
syndrome, X-linked 1 (ISSX1), Infantile
epilepsy, West Syndrome |
308350 |
Approved |
|
Leber Hereditary
Optic Neuropathy (LHON) |
535000 |
Approved |
|
Lissencephaly
(LIS-1 gene) |
607432 |
Approved |
|
Lissencephaly –
X-linked (DCX gene) |
300121, 300067 |
Approved |
|
Lissencephaly
type 3 (TUBA1A gene) |
611603 |
Pending |
|
Lissencephaly,
Bilateral Frontoparietal Polymicrogyria (BFPP)
(GPR56 gene) |
606854 |
Pending |
|
Metastatic
Colorectal Cancer – prediction of response to
Cetuximab (KRAS gene) |
114500, 190070 |
N/A |
|
MUTYH-associated
Polyposis (multiple colorectal adenomas) |
604933 |
Approved |
|
Myotonic Dystrophy
1, Dystrophia Myotonica 1 (DM1 gene) |
160900 |
Approved |
|
Neurofibromatosis
Type 1 (NF1) |
162200 |
Approved |
|
Neurofibromatosis-like Syndrome (NFLS) (SPRED1
gene) |
611431 |
Approved |
|
Non-small Cell
Lung Carcinoma – prediction of response to
Gefitinib/Erlotinib (EGFR gene) |
211980, 131550 |
N/A |
|
Optic atrophy,
autosomal dominant (OPA1) |
165500 |
Approved |
|
Parkinson’s
disease, Young onset |
168600 |
Approved |
|
Pitt-Hopkins
Syndrome (PTHS) (TCF4 gene) |
610954, 602272 |
Pending |
|
Proximal Myotonic
Myopathy (PROMM), Myotonic Dystrophy 2 (DM2),
Dystrophia Myotonica 2 |
116955 |
Approved |
|
Rett Syndrome
(MECP2 gene) |
312750 |
Approved |
|
Congenital variant
of Rett Syndrome (FOXG1 gene) |
312750 |
Pending |
|
X-Linked Angelman-like
Syndrome (SLC9A6 gene) |
300243 |
Pending |
|
Xq28 X-linked
Mental Retardation Duplication Syndrome (MECP2,
IRAK4 genes) |
300260 |
Approved |
|
Spinal
Cerebellar Ataxia types 1, 2, 3 (Machado
Joseph), 6, 7 & 17 (SCA) |
164400, 183090,
109150, 183086, 164500, 607136 |
Approved |
|
Spinal Muscular
Atrophy (SMA) |
253300 |
Approved |
|
Tuberous Sclerosis
Complex Type 1 / 2 (TSC1 / TSC2 genes) |
191100 191092 |
Approved |