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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
Turner syndrome (Mosaic) approved
Tyrosinaemia Type 1 approved 276700
Tyrosine Hydroxylase Deficiency approved 605407
UBE2A - Intellectual Disability type Nascimento - X linked approved 300860
Ullrich Congenital Muscular Dystrophy 1 (UCMD1) approved 254090
Usher syndrome type 1 (including subtypes 1B, 1C, 1D, 1F, 1G, 1J) approved 276900 276904 601067 602083 606943 614869
Usher syndrome type 2 (including subtypes 2A, 2C and 2D) approved 276901, 605472, 611383
Van der Woude syndrome Type 1 approved 119300
Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL) approved 192315
Vici syndrome (VICIS) approved 242840
Von Hippel Lindau syndrome (VHL) approved 193300
Waardenburg Syndrome Type I (WS1) approved 193500
Waardenburg Syndrome Type IIa (WS2A) approved 193510
Waardenburg Syndrome Type IId (WS2D) approved 608890
Waardenburg Syndrome Type IIe (WS2E) approved 611584
Waardenburg Syndrome Type III (WS3) approved 148820
Waardenburg Syndrome Type IVa (WS4A) approved 277580
Waardenburg Syndrome Type IVb (WS4B) approved 613265
Waardenburg Syndrome Type IVc (WS4C) approved 613266
Werner Syndrome (WRN) approved 277700