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 |
---|---|---|---|
Autosomal Dominant Retinitis Pigmentosa Type 4 | approved | 613731 | |
Autosomal dominant vitreoretinochoroidopathy | approved | 193220 | |
Autosomal recessive bestrophinopathy | approved | 611809 | |
Autosomal recessive congenital hyperinsulinism | approved | 256450, 601820 | |
Autosomal Recessive Deafness 77 (DFNB77) | approved | 613079 | |
Autosomal recessive Deafness Type 1A (DFNB1A) | approved | 220290 | |
Autosomal Recessive Dopa Responsive Dystonia | approved | 233910 | |
Autosomal recessive Epidermolysis Bullosa Dystrophica (RDEB) | approved | 226600 | |
Autosomal Recessive Mitochondrial Complex 1 Deficiency (Complex 1 Deficient Leigh Syndrome) | approved | 252010 | |
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) | approved | 267500 | |
Axenfeld-Rieger syndrome Types 1 and 3 | approved | 180500, 602482 | |
Bailey-Bloch Congenital Myopathy (BBCM) | approved | 255995 | |
BAP1 tumour predisposition syndrome (BAP1-TPDS) | approved | 614327 | |
Bardet-Biedl Syndrome (BBS1) | approved | 209900 | |
Bardet-Biedl Syndrome 10 (BBS10) | approved | 615987 | |
Bardet-Biedl Syndrome 7; BBS7 | awaiting approval | 615984 | |
Bare Lymphocyte Syndrome, Type II, complementation groups A-E | approved | 209920 | |
Barth Syndrome | approved | 302060 | |
Bartsocas-Papas Syndrome (Popliteal Pterygium syndrome, lethal type) | approved | 263650 | |
Bartter Syndrome Types 1, 2, 3, 4a & 4b (BARTS) | approved | 601678, 241200, 607364, 602522, 613090 | |