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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
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) approved 110100
Bloom Syndrome approved 210900
Branchio-oculo-facial Syndrome (BOFS) approved 113620
Branchio-Oto-Renal Syndrome 1 (BOR1) approved 113650
BRCA 1 (increased susceptibility to breast cancer) approved 113705
Breast Ovarian Cancer Familial Susceptibility (BRCA2) approved 612555, 600185
Brooke-Spiegler Syndrome (BSS) approved 605041
Brugada Syndrome 1 (Sudden Unexplained Nocturnal Death Syndrome (SUNDS)) approved 601144
Calpainopathy approved 253600
Campomelic Dysplasia approved 114290
Canavan Disease approved 271900
Capillary Malformation-Arteriovenous Malformation Type 1 (CM-AVM1) approved 608354
Capillary Malformation-Arteriovenous Malformation Type 2 (CM-AVM2) approved 618196
Carney Complex approved 160980
Carnitine Acylcarnitine Translocase Deficiency (CACT) approved 212138
Cartilage-Hair Hypoplasia approved 250250
Cartilage-hair hypoplasia spectrum approved 157660
Cataract 1 (CTRCT1) approved 116200
Cataract 2 (CTRCT2) approved 604307
Cataract 4 (CTRCT4) approved 115700