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PGT-M conditions

This table shows all PGT-M 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 pgtm@hfea.gov.uk.

Condition name Status OMIM number Documents
Spinocerebellar Ataxia Type 1 (SCA1) approved 164400
Spinocerebellar ataxia type 14 approved 605361
Spinocerebellar Ataxia Type 2 (SCA2) approved 183090
Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease) approved 109150
Spinocerebellar Ataxia Type 6 (SCA6) approved 183086
Split hand/foot malformation 3 (SHFM3) approved 246560
Spondyloepimetaphyseal dysplasia, Strudwick approved 184250
Spondyloepiphyseal Dysplasia Congenita approved 183900
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) approved 313400
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD) approved 143095
Spondylo-epiphyseal dysplasia, Maroteaux type approved 184095
Spondylometaepiphyseal Dysplasia Short Limb Hand type (SMED-SL) approved 271665
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) approved 184252
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, Pulmonary Type 1 (SMDP1) approved 265120