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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
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
Hypocalcemia, autosomal dominant 2 (HYPOC2) approved 615361
Hypochondroplasia approved 146000
Hypophosphatasia (Infantile/perinatal lethal) approved 241500
Hypophosphatasia, Adult (HPPA) approved 146300
Hypophosphatasia, Adult; HPPA awaiting approval 146300
Hypophosphatasia, Childhood (HPPC) approved 241510
Hypophosphatemic Rickets (x-linked dominant) (XLHR) approved 307800
Hypospadias (severe) approved
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) approved 615419
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) approved 616801
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) approved 616900
Hypotonia, Parastremmatic Dwarfism approved 168400
Ichthyosis (x-linked) (XLI) approved 308100
Ichthyosis 4B (Harlequin) (ARC14B) approved 242500
Ichthyosis follicularis-alopecia-photophobia Syndrome; IFAP Syndrome 1 With or Without Bresheck Syndrome; (IFAP1) approved 308205