|
Disease |
OMIM |
UKGTN service*
(Approved,
Pending, N/A) |
|
Alport
syndrome
(X linked;
COL4A5) |
301050 |
YES |
|
Alport
syndrome (recessive; COL4A3,
COL4A4) |
203780 |
YES |
|
Alzheimer
disease: familial, type 3 (PSEN1) |
104311 |
YES |
|
Amyotrophic
Lateral Sclerosis type 1 (SOD1) |
105400 |
YES |
|
Breast /
ovarian cancer, familial (BRCA1; BRCA2) |
113705
600185 |
YES |
|
Brown-Vialetto-Van Laere syndrome (C20ORF54) |
211530 |
Pending |
|
Central Core
Disease (RYR1) |
117000 |
Pending |
|
Centronuclear
myopathy,
autosomal
recessive (Bin1) |
255200 |
Pending |
|
Centronuclear
myopathy,
autosomal
dominant (DNM2) |
160150 |
Pending |
|
Centronuclear
myopathy, XL
recessive (MTM1) |
310400 |
Pending |
|
Congenital
muscular dystrophy, type 1A (LAMA2;
merosin
deficient) |
156225 |
YES |
|
Congenital
muscular dystrophy, type 1C (FKRP) |
606612 |
YES |
|
Congenital
muscular dystrophy (Large-related) type 1D (Large) |
608840 |
YES |
|
Cystic Fibrosis |
219700 |
YES |
|
Duchenne
/ Becker Muscular Dystrophy |
310200 300276 |
YES |
|
Familial
dysautonomia
(Riley Day syndrome) |
223900 |
YES |
|
Fanconi
Anaemia (FACA, FACC) |
227650; 227645 |
YES |
|
Fragile X disease (FRAXA; FRAXE) |
309550 |
|
|
Fukuyama
congenital muscular dystrophy (fukutin) |
253800 |
YES |
|
Huntington
Disease |
143100 |
YES |
|
Infantile spasm syndrome, X Linked
(ARX) |
300419 |
YES |
|
Medium Chain
CoA
Dehydrogenase
Deficiency (ACADM) |
201450 |
YES |
|
Muscle Eye
Brain disorder (POMGNT1) |
253280 |
YES |
|
Nemaline
Myopathy 1
(TPM3) |
609284 |
Pending |
|
Nemaline
myopathy 3
(ACTA1) |
161800 |
Pending |
|
Nemaline
myopathy 4
(TPM2) |
609285 |
Pending |
|
Nemaline
myopathy 7
(CFL2) |
610687 |
Pending |
|
Niemann
Pick disease C1 & C2 (NPC1, NPC2) |
257220
607625 |
Pending |
|
Osler-Redndu-Weber
disease (hereditary hemorrhagic
telangiectasia
type 1) (ENG) |
187300 |
YES |
|
Primary
Pulmonary Hypertension (BMPR2) |
178600 |
YES |
|
Primary
Pulmonary Hypertension, HHT-related (ACVRL1) |
600376 |
YES |
|
Rigid spine
syndrome (SEPN1) |
602771 |
YES |
|
Spastic
paraplegia 3a
(ATL1) |
182600 |
YES |
|
Spastic
paraplegia 4
(SPAST) |
182601 |
YES |
|
Spastic
paraplegia 6
(NIPA1) |
600363 |
YES |
|
Spastic
paraplegia 31
(REEP1) |
610250 |
YES |
|
Spinal Muscular
Atrophy (SMN1) |
253300 |
YES |
|
Spinal Muscular
Atrophy X linked (UBE1) |
301830 |
Pending |
|
Spinal Muscular
atrophy with respiratory distress (IGHMBP2) |
604320 |
YES |
|
Tay Sachs
disease
(HEXA) |
606869 |
Pending |
|
Ullrich
syndrome (COL6A1,2,3) |
254090 |
YES |
|
VACTERL with
Hydrocephalus syndrome, X linked (FANCB) |
314390 |
YES |
|
Walker-Warburg
syndrome (POMT1, POMT2) |
236670 |
YES |