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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
Neuronopathy Distal Hereditary Motor, Type 2C (HMN2C) approved 613376
Neuronopathy Distal Hereditary Motor, Type 2D (HMN2D) approved 615575
Neuronopathy Distal Hereditary Motor, Type 5A (HMN5A) approved 600794
Neuronopathy Distal Hereditary Motor, Type 5B (HMN5B) approved 614751
Neuronopathy Distal Hereditary Motor, Type 5C (HMN5C) approved 619112
Neuronopathy Distal Hereditary Motor, Type 7A (HMN7A) approved 158580
Neuronopathy Distal Hereditary Motor, Type 7B (HMN7B) approved 607641
Neuronopathy Distal Hereditary Motor, Type IX (HMN9) approved 617721
Neuronopathy, distal hereditary motor, type VIII (HMN8) approved 600175
Neuropathy, distal hereditary motor, type IIA (HMN2A) approved 158590
Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP awaiting approval #162500
Niemann-Pick Disease Type A approved 257200
Niemann-Pick disease Type C1 and D approved 257220
Night Blindness, Congenital Stationary, Type 2A; CSNB2A awaiting approval #300071
non-Herlitz Junctional Epidermolysis Bullosa approved 226650
Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE) approved 605899
Noonan Syndrome approved 163950
Noonan Syndrome Type 10 approved 616564
Noonan Syndrome Type 2 approved 605275
Noonan Syndrome Type 3 approved 609942