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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
Nephropathic Cystinosis (CTNS) approved 219800
Nephrotic syndrome Type 1 (NPHS1) approved 256300
Nephrotic syndrome Type 2 (NPHS2) approved 600995
Netherton Syndrome approved 256500
Neurodegeneration with Brain Iron Accumulation 1 (NBIA1) approved 234200
Neurodegeneration with Brain Iron Accumulation 2A (NBIA2A) approved 256600
Neurodegeneration with Brain Iron Accumulation 2B (NBIA2B) approved 610217
Neurodegeneration with Brain Iron Accumulation 3 (NBIA3) approved 606159
Neurodegeneration with Brain Iron Accumulation 4 (NBIA4) approved 614298
Neurodegeneration with Brain Iron Accumulation 5 (NBIA5) approved 300894
Neurodegeneration with Brain Iron Accumulation 6 (NBIA6) approved 615643
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (NEDCAFD) approved 619244
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation (NEDHRIT) approved 618797
Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) approved 618425
Neurodevelopmental Disorder with Progressive Microcephaly Spasticity and Brain Anomalies (NDMSBA) approved 617527
Neurofibromatosis type 1 (NF1) approved 162200
Neurofibromatosis Type 2 (NF2) approved 101000
Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa (NARP) approved 551500
Neuronal Ceroid Lipofuscinosis Type 3 (Batten disease) (CLN3) approved 204200
Neuronopathy Distal Hereditary Motor, Type 2C (HMN2C) approved 613376