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Primary ciliary disorders v1.40 XPNPEP3 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).
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Red List (low evidence)
Primary ciliary disorders v1.40 XPNPEP3 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.
Primary ciliary disorders v1.40 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Red List (Low Evidence).
Primary ciliary disorders v1.39 XPNPEP3 Sarah Leigh reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary ciliary disorders v1.39 XPNPEP3 Sarah Leigh Mode of inheritance for gene: XPNPEP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders v1.38 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to
Primary ciliary disorders v1.37 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from ciliopathies to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163