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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
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 atypical multiple mole melanoma syndrome (FAMMM) awaiting approval 606719
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
Familial Haemophagocytic Lymphohistiocytosis type 4 approved 603552
Familial Hemophagocytic Lymphohistiocytosis (FHL) approved 603553
Familial Hemophagocytic Lymphohistiocytosis 5 (FHL5) approved 613101
Familial Hypertrophic Cardiomyopathy 4 (CMH4) approved 115197
Familial Hypertrophic Cardiomyopathy type 1, 3, 7 and 10 (CMH1 , CMH3, CMH7, CMH10) approved 192600, 115196, 613690, 608758
Familial Infantile Myoclonic Epilepsy (FIME) approved 605021
Familial Juvenile Hyperuricemic Nephropathy 1 (HNFJ1) approved 162000
Familial Myelodysplastic Syndrome approved 614286
Familial Paranganglioma Syndrome (PGL1) approved 168000
Familial Partial Lipodystrophy Type 3 approved 604367