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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.

Download full approved condition list.

Condition name Status OMIM number Documents
Donohue Syndrome approved 246200
Dopamine Responsive Dystonia (DRD) approved 128230
Downs Syndrome approved 190685
Doyne honeycomb retinal dystrophy (DHRD) approved 126600
Dravet Syndrome (DEE6A) approved 607208
Duane-radial ray syndrome (Okihiro syndrome, acro-renal-ocular syndrome, SALL4-related Holt Oram syndrome) approved 607323
Dyskeratosis congenita (Male embryos only) approved 305000
Dyskeratosis Congenita types A2 and B4, due to TERT mutation approved 613989
Dystonia 1 Torsion Autosomal Dominant (DYT1) approved 128100
Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) awaiting approval #617193
Ectodermal dysplasia / skin fragility syndrome approved 604536
Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate syndrome 3 (EEC3) approved 604292
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC) approved 129900
Ehlers-Danlos periodontal type 1 (EDSPD1) approved 130080
Ehlers-Danlos periodontal type 2 (EDSPD2) approved 617174
Ehlers-Danlos Syndrome, Kyphoscoliotic, type 1 (EDSKSCL1) approved 225400
Ehlers-Danlos Syndrome, Kyphoscoliotic, type 2 (EDSKSCL2) approved 614557
Ehlers-Danlos Type IV approved 130050
Elastin (ELN)-related Supravalvular Aortic Stenosis approved 185500
Ellis-Van Crevald Syndrome approved 225500