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  2. Renal and urinary tract disorders
  3. COL4A3
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Renal and urinary tract disorders

Gene: COL4A3

Green List (high evidence)
COL4A3 (collagen type IV alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000169031
EnsemblGeneIds (GRCh37): ENSG00000169031
OMIM: 120070, Gene2Phenotype
COL4A3 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported
Created: 4 Aug 2016, 11:41 a.m.
Created: 4 Aug 2016, 11:41 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.177

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome, autosomal dominant, 104200
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal recessive, 203780
OMIM
120070
Clinvar variants
Variants in COL4A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: COL4A3 was added gene: COL4A3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: COL4A3 were set to 25381091 Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome, autosomal recessive, 203780