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 |
|---|---|---|---|
| Atypical Haemolytic Uraemic Syndrome (aHUS) type 7 | approved | 615008 | |
| 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 77 (DFNB77) | awaiting approval | 613079 | |
| 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 | |
| BAP1 tumour predisposition syndrome (BAP1- TPDS) | awaiting approval | 614327 | |
| BAP1 tumour predisposition syndrome (BAP1-TPDS) | approved | 614327 | |