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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
Atypical Haemolytic Uraemic Syndrome (aHUS) type 2 approved 612922
Atypical Haemolytic Uraemic Syndrome (aHUS) type 3 approved 612923
Atypical Haemolytic Uraemic Syndrome (aHUS) type 4 approved 612924
Atypical Haemolytic Uraemic Syndrome (aHUS) type 5 approved 612925
Atypical Haemolytic Uraemic Syndrome (aHUS) type 6 approved 612926
Atypical Haemolytic Uraemic Syndrome (aHUS) type 7 approved 615008
Auditory Neuropathy and Optic Atrophy (ANOA) approved 617717
Autosomal Dominant Acute Necrotizing Encephalopathy approved 608033
Autosomal dominant Dyskeratosis Congenita 1 (DKCA1) due to TERC mutation approved 127550
Autosomal dominant familial exudative vitreoretinopathy Types 1, 4 and 5 approved 133780, 613310, 601813
Autosomal Dominant Polycystic Kidney Disease 1 (APKD1) approved 173900
Autosomal Dominant Retinitis Pigmentosa (AP37) approved 611131
Autosomal Dominant Retinitis Pigmentosa Type 4 approved 613731
Autosomal dominant vitreoretinochoroidopathy approved 193220
Autosomal recessive bestrophinopathy approved 611809
Autosomal recessive congenital hyperinsulinism approved 256450, 601820
Autosomal recessive congenital Titinopathies awaiting approval gene OMIM number 188840
Autosomal Recessive Deafness 77 (DFNB77) approved 613079
Autosomal recessive Deafness Type 1A (DFNB1A) approved 220290
Autosomal Recessive Dopa Responsive Dystonia approved 233910