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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
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
Temtamy syndrome (TEMTYS) approved 218340
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
Thrombocytopenia Absent Radius (TAR) Syndrome approved 274000
Timothy Syndrome (TS) approved 601005
Townes-Brocks Syndrome approved 107480
TPRN-associated autosomal recessive non-syndromic deafness (DFNB79) approved 613307
Transcobalamin II Deficiency approved 275350
Treacher Collins Syndrome 1 (TCS1) approved 154500
Treacher Collins Syndrome Type 2 (TCS2) approved 613717
Trichorhinophalangeal syndrome type 1 approved 190350