Date Panel Item Activity
3 actions
Haematuria v2.9 COL4A5 Eleanor Williams Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; 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; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050
Haematuria v1.18 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
Haematuria v1.17 COL4A5 Eleanor Williams Source NHS GMS was added to COL4A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)