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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
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) approved 604772
Catecholaminergic Polymorphic Ventricular Tachycardia type 3 (CPVT3) approved 614021
Catecholaminergic Polymorphic Ventricular Tachycardia type 4 (CPVT4) approved 614916
Catecholaminergic Polymorphic Ventricular Tachycardia type 5 with or without muscle weakness (CPVT5) approved 615441
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2) approved 611938
Central Core Disease of Muscle (CCD) approved 117000
Centronuclear Myopathy (CNM1) approved 160150
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 1 approved 224050
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 2 approved 610185
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 3 approved 613227
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 4 approved 615268
Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL) approved 125310
Cerebral Cavernous Malformations (CCM) approved 116860
Cerebral Cavernous Malformations 3 (CCM3) approved 603285
Cerebral Creatine Deficiency Syndrome 1 (CCDS1) approved 300352
Cerebral Creatine Deficiency Syndrome 2 (CCDS2) approved 612736
Cerebral Creatine Deficiency Syndrome 3 (CCDS3) approved 612718
Cerebro-oculo-facial-skeletal syndrome Type 1 (COFS1) approved 214150
Cerebro-oculo-facial-skeletal syndrome Type 2 (COFS2) approved 610756
Cerebro-oculo-facial-skeletal syndrome Type 3 (COFS3) approved 616570