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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
Primary Microcephaly 4 (MCPH4) approved 604321
Primary Microcephaly 5 (MCPH5) approved 608716
Primary Microcephaly 6 (MCPH6) approved 608393
Primary Microcephaly 7 (MCPH7) approved 612703
Primary Microcephaly 8 (MCPH8) approved 614673
Primary Microcephaly 9 (MCPH9) approved 614852
Prion disease with protracted course approved 606688
Progressive External Opthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 (PEOA3) approved 609286
Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) approved 211600
Prolidase Deficiency approved 170100
Propionic Acidemia approved 606054
Pseudoachondroplasia approved 177170
Pseudohypoparathyroidism (PHP1a) approved 103580
Pseudo-TORCH syndrome-type 1 approved 251290
Pseudo-TORCH syndrome-type 2 approved 617397
Pseudovaginal Perineoscrotal Hypospadias due to 5-Alpha-Reductase Deficiency (insofar as that condition affects males, with simultaneous sex determination) approved 264600
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) approved 604416
Pyrodoxine-dependent seizures (EPD) approved 266100
Pyruvate dehydrogenase E1-alpha deficiency X-linked approved 312170
Pyruvate Dehydrogenase E1-beta Deficiency approved 614111