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Proteinuric renal disease v1.95 | COL4A5 | Eleanor Williams Phenotypes for gene: COL4A5 were changed from to Alports; Familial benign haematuria; Alport syndrome; proteinuria; haematuria; FSGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.94 | COL4A5 | Eleanor Williams Publications for gene: COL4A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.16 | COL4A5 | Eleanor Williams reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29987460, 29270492; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | COL4A5 |
Eleanor Williams Source NHS GMS was added to COL4A5. Rating Changed from Green List (high evidence) to Green List (high evidence) |