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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.

Download full approved condition list.

Condition name Status OMIM number Documents
Pyruvate Dehydrogenase, Alpha-1 (PDHA1) approved 312170
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 1 (RUSAT1) approved 605432
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) approved 616738
Rapp-Hodgkin Syndrome (RHS) approved 129400
Recurrent Digynic Triploidy approved
Recurrent hydatidiform mole (HYDM1) approved 231090
Recurrent infections with encephalopathy, hepatic dysfunction and cardiovascular malformations (FADD deficiency) approved 613759
Renal cell carcinoma, papillary, 1 (RCCP1) approved 605074
Renal Coloboma Syndrome approved 120330
Renal Cysts and Diabetes (RCAD) approved 137920
Retinal macular dystrophy 2 approved 608051
Retinitis Pigmentosa (autosomal dominant) approved 180100
Retinitis Pigmentosa (RP3) (x-linked) approved 300029
Retinitis Pigmentosa (x-linked) approved 300455
Retinitis Pigmentosa 10 (RP10) approved 180105
Retinitis Pigmentosa 13 (RP13) approved 600059
Retinitis Pigmentosa 18 (RP18) approved 601414
Retinitis pigmentosa 2 (RP2) approved 312600
Retinitis Pigmentosa 27 (RP27) approved 613750
Retinitis Pigmentosa 31 (RP31) approved 609923