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Haematuria v2.7 | COL4A3 | Eleanor Williams Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematuria v1.23 | COL4A3 | Eleanor Williams Publications for gene: COL4A3 were set to 17942953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematuria v1.18 | COL4A3 | Eleanor Williams reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematuria v1.17 | COL4A3 |
Eleanor Williams Source NHS GMS was added to COL4A3. Rating Changed from Green List (high evidence) to Green List (high evidence) |