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PGD conditions

This table shows all PGD 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 pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
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 Deafness Type 1A (DFNB1A) approved 220290
Autosomal Recessive Dopa Responsive Dystonia approved 233910
Autosomal Recessive Mitochondrial Complex 1 Deficiency (Complex 1 Deficient Leigh Syndrome) approved 252010
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) approved 267500
Autsomal recessive Epidermolysis Bullosa Dystrophica (RDEB) approved 226600
Axenfeld-Rieger syndrome Types 1 and 3 approved 180500, 602482
Bailey-Bloch Congenital Myopathy (BBCM) approved 255995
Bardet-Biedl Syndrome (BBS1) approved 209900
Bardet-Biedl Syndrome 10 (BBS10) approved 615987
Bare lymphocyte syndrome, type II, complementation group A secondary to CIITA awaiting approval 209920, 600005
Bare Lymphocyte Syndrome, Type II, complementation groups A-E approved 209920