|
Disease |
OMIM |
UKGTN service* |
|
Alport syndrome |
301050 |
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 |
|
|
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 |
608840 |
YES |
|
Cystic Fibrosis ** (PGD only) |
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 |
253800 |
YES |
|
Huntington Disease ** |
143100 |
|
|
Muscle Eye
Brain disorder (POMGNT1) |
253280 |
YES |
|
Rigid spine syndrome (SEPN1) |
602771 |
YES |
|
Sickle Cell disease ** (PGD only) |
603903 |
YES |
|
Spastic paraplegia (spastin; SPG4) |
182601 |
YES |
|
Spinal Muscular Atrophy (SMN1) ** |
253300 |
YES |
|
Spinal Muscular
atrophy with respiratory distress |
604320 |
YES |
|
Ullrich syndrome (COL6A1,2,3) |
254090 |
YES |
|
Walker-Warburg syndrome (POMT1, POMT2) |
236670 |
YES |
|
|
|
|