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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
Epidermolysis bullosa, lethal acantholytic approved 609638
Epidermolytic hyperkeratosis (EHK) approved 113800
Epiphyseal Dysplasia, Multiple, 1 (EDM1) approved 132400
Epiphyseal Dysplasia, Multiple, 2 (EDM2) approved 600204
Epiphyseal Dysplasia, Multiple, 3 (EDM3) approved 600969
Epiphyseal Dysplasia, Multiple, 4 (EDM4) approved 226900
Epiphyseal Dysplasia, Multiple, 6 (EDM6) approved 614135
Epiphyseal Dysplasia, Multiple, 7 (EDM7) approved 617719
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
Familial Haemophagocytic Lymphohistiocytosis type 3 (FHL3) approved 608898