Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 4 actions
10 Mar 2021	Haematuria v2.8	COL4A4	Eleanor Williams Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign; 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 recessive; (originally on Alport syndrome gene panel) to Alport syndrome 2, autosomal recessive OMIM:203780; Hematuria, familial benign OMIM:141200
17 Jun 2019	Haematuria v1.24	COL4A4	Eleanor Williams Publications for gene: COL4A4 were set to 17942953
03 Feb 2019	Haematuria v1.18	COL4A4	Eleanor Williams reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
03 Feb 2019	Haematuria v1.17	COL4A4	Eleanor Williams Source NHS GMS was added to COL4A4. Rating Changed from Green List (high evidence) to Green List (high evidence)