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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
Holt Oram Syndrome approved 142900
Homocystinuria approved 236200
Homozygous familial hypercholesterolaemia (approved when homozygously inherited but not when heterozygously inherited) approved 143890
Huntington Disease (Huntington Chorea) (HD) approved 143100
Huntington disease-like (HDL1) approved 603218
Hutchinson-Gilford Progeria Syndrome (HGPS) approved 176670
Hyaline Fibromatosis Syndrome (HFS) approved 228600
Hyper IgM Syndrome - Hypogammaglobulinaemia* approved 308230
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant approved 147060
Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) approved 261640
Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) approved 233910
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) approved 261630
Hyperphosphatasia with intellectual disability syndrome 2 approved 614749
Hyperphosphatasia with intellectual disability syndrome 3 approved 614207
Hyperphosphatasia with intellectual disability syndrome 5 approved 616025
Hyperphosphatasia with intellectual disability syndrome 6 approved 616809
Hyperphosphatasia with intellectual disability syndrome 7 approved 280000
Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4) approved 615716
Hypertrophic Neuropathy of Dejerine-Sottas (HNDS) approved 145900
Hypocalcemia, autosomal dominant 1 (HYPOC1) approved 601198