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.
Download full approved condition list.
| Condition name | Status | OMIM number | Documents |
|---|---|---|---|
| Spinocerebellar Ataxia Autosomal Recesive 20, SCAR20 (SNX14-related cerebellar hypoplasia) | approved | 616354 | |
| 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 | |
| Split hand/foot malformation with long bone deficiency type 3 (SHFLD3) | approved | 612576 | |
| 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, Corner Fracture Type (SMDCF) | awaiting approval | 184255 | |
| 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 | |