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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
Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate syndrome 3 (EEC3) approved 604292
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC) approved 129900
Ehlers-Danlos periodontal awaiting approval 120580
Ehlers-Danlos Type IV approved 130050
Elastin (ELN)-related Supravalvular Aortic Stenosis approved 185500
Ellis-Van Crevald Syndrome approved 225500
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only) approved 310300
Emery-Dreifuss muscular dystrophy 4 (EDMD4) approved 612998
Emery-Dreifuss muscular dystrophy 5 (EDMD5) approved 612999
Emery-Dreifuss muscular dystrophy 6 X-Linked (EDMD6) approved 300696
Emery-Dreifuss muscular dystrophy 7 (EDMD7) approved 614302
Emery-Dreifuss Muscular Dystrophy type 2 - for cases where there is proven evidence of mosaicism in the blood or as a result of a second affected child approved 181350
Emery-Dreifuss Muscular Dystrophy type 3 approved 616516
Epidermolysis bullosa simplex, with muscular dystrophy (EBS-MD) approved 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
Epidermolytic hyperkeratosis (EHK) approved 113800
Epiphyseal Dysplasia, Multiple, 1 (EDM1) approved 132400
Epiphyseal Dysplasia, Multiple, 2 (EDM2) approved 600204