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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
Ellis-Van Crevald Syndrome approved 225500
Emberger Syndrome awaiting approval 614038
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only) approved 310300
Emery-Dreifuss Muscular Dystrophy type 2 approved 181350
Epidermolysis Bullosa Simplex with muscular dystrophy (EBS-MD) awaiting approval 226670
Epidermolysis bullosa simplex, with pyloric atresia (EBSPA) approved 612138
Epidermolysis bullosa, junctional, with pyloric stenosis or pyloric atresia approved 226730
Epidermolysis bullosa, lethal acantholytic approved 609638
Epilepsy, female restricted, with mental retardation (EFMR) approved 300088
Episodic Ataxia Type 2 (EA2) approved 108500
Episodic Kinesigenic Dyskinesia type1 (EKD1) approved 128200
Facioscapulohumeral Muscular Dystrophy (FSHD1) approved 158900
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) approved 158901
Factor XIII deficiency approved 613225
Familial Adenomatous polyposis 1 (FAP1) approved 175100
Familial Adenomatous Polyposis 2 (FAP2) (MUTYH-associated polyposis) approved 608456
Familial Creutzfeldt-Jakob disease (fCJD), approved 123400
Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2) approved 191045
Familial Dysautonomia approved 223900
Familial Fatal Insomnia approved 600072