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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
Myopathy, Myofibrillar 4 approved 609452
Myopathy, Myofibrillar 5 approved 609524
Myopathy, Myofibrillar 6 approved 612954
Myopathy, Myofibrillar 7 approved 617114
Myopathy, Myofibrillar 8 approved 617258
Myopathy, Myofibrillar 9 with early respiratory failure approved 603689
Myopathy, Myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related approved 613869
Myopathy, spheroid body, (due to mutations in the same gene as myopathy, myofibrillar 3 and with similar phenotype) approved 182920
Myotonia Congenita, Autosomal Dominant approved 160800
Myotonia Congenita, Autosomal Recessive approved 255700
Myotonic Dystrophy approved 160900
Myotonic Dystrophy type 2 approved 602668
Myotubular myopathy approved 310400, 300219
Nail-Patella Syndrome (NPS) approved 161200
Nance-Horan Syndrome (NHS) approved 302350
Nemaline Myopathy ACTA 1 approved 161800
Nemaline myopathy type 2 (NEM2) approved 256030
Nemaline Myopathy type 8 approved 615348
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1) approved 614328
Neonatal Inflammatory Skin and Bowel Disease 2 (NISBD2) approved 616069