PGD conditions
This table shows all PGD conditions currently approved and awaiting consideration by the HFEA.
Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgd@hfea.gov.uk.
| Condition name | Status | OMIM number | Documents |
|---|---|---|---|
| Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD) | approved | 143095 | |
| Spondylometaepiphyseal Dysplasia Short Limb Hand type (SMED-SL) | approved | 271665 | |
| Stargardt disease type 1 | approved | 248200 | |
| Stickler Syndrome Type I, II, III and IV | approved | 108300, 609508, 604841, 184840, 614134 | |
| Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome) | approved | 601559 | |
| Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) | approved | 271980 | |
| Sudden Cardiac Failure, Alcohol Induced (SCFAI) | approved | 617223 | |
| Sudden Cardiac Failure, Infantile (SCFI) | approved | 617222 | |
| Surfactant Metabolism Dysfunction Type 3 (SMDP3) | awaiting approval | 610921 | |
| Surfactant Metabolism Dysfunction, Pulmonary Type 1 (SMDP1) | approved | 265120 | |
| Surfactant Metabolism Dysfunction, Pulmonary Type 3 (SMDP3) | approved | 610921 | |
| Surfactant Metabolism Dysfunction, Pulmonary, Type 2 (SMDP2) | approved | 610913 | |
| Susceptibility to breast cancer due to a mutation in the c.7271T>G Ataxia-Telangiectasia Mutated (ATM) Gene | approved | *607585 | |
| Syndromic Microphthalmia 1 (MCOPS1) (Lenz syndrome) | approved | 309800 | |
| Syndromic Microphthalmia 12 (MCOPS12) | approved | 615524 | |
| Tay Sachs Disease (infantile onset) (TSD) | approved | 272800 | |
| Thiamine Metabolism Dysfunction Syndrome 2 | approved | 607196 | |
| Thiamine Metabolism Dysfunction Syndrome 3 | approved | 607196 | |
| Thiamine Metabolism Dysfunction Syndrome 5 | approved | 614458 | |
| Thiamine-responsive Megaloblastic Anaemia | approved | 249270 | |