Sarah Leigh commented on gene: XPNPEP3: Helen Brittain (GEL Clinical Fellow) agrees with the review from Ian Berry (below) that this gene is not relevant for Primary ciliary disorders. XPNPEP3 is recommended to be green on Renal ciliopathies (https://panelapp.genomicsengland.co.uk/panels/725/gene/XPNPEP3/#!review).
Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, the reviewers question the relevance of the phenotype associated with variants in XPNPEP3. Helen Brittain (GEL Clinical Fellow) has been consulted regarding this issue.
Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from ciliopathies to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163