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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
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
Autsomal recessive Epidermolysis Bullosa Dystrophica (RDEB) approved 226600
Axenfeld-Rieger syndrome Types 1 and 3 approved 180500, 602482
BAG3 related CARDIOMYOPATHY, DILATED awaiting approval 613881
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
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
Beare Stevenson syndrome approved 123790
Beckwith-Wiedemann Syndrome caused by a mutation in the CDKN1C gene or inheritance of a chromosome translocation, deletion or duplication affecting the chromosome 11 Beckwith Wiedemann syndrome region approved
Benign Chronic Pemphigus (BCPM) approved 169600
Beta Thalassaemia* approved 141900
Bethlem Myopathy 1 (BTHLM1) approved 158810
Bilateral Frontoparietal Polymicrogyria (BFPP) approved 606854
Birt-Hogg-Dubé Syndrome approved 135150