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Structural eye disease v0.76 | XPC | Nicola Ragge reviewed gene: XPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | XPC | Ivone Leong edited their review of gene: XPC: Changed phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | XPC | Ivone Leong reviewed gene: XPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 19, 614844, Nephronophthisis 14, 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | XPC |
Ivone Leong Source NHS GMS was added to XPC. Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 for gene: XPC |
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Structural eye disease v0.2 | XPC |
Ellen McDonagh gene: XPC was added gene: XPC was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: XPC was set to |