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PGD conditions

This table shows all PGD 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 pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
Autsomal recessive Epidermolysis Bullosa Dystrophica (RDEB) approved 226600
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
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 approved 158810
Bilateral Frontoparietal Polymicrogyria (BFPP) approved 606854
Birt-Hogg-Dubé Syndrome approved 135150
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) approved 110100
Bloom Syndrome approved 210900
Branchio-oculo-facial Syndrome (BOFS) approved 113620