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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
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