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 | |