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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
TPRN-associated autosomal recessive non-syndromic deafness (DFNB79) approved 613307
Transcobalamin II Deficiency awaiting approval 275350
Treacher Collins Syndrome 1 (TCS1) approved 154500
Treacher Collins Syndrome Type 2 (TCS2) approved 613717
Trichorhinophalangeal syndrome type 1 approved 190350
Tuberous Sclerosis (TSC1 and TSC2) approved 191100, 613254
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