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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