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  2. Unexplained kidney failure in young people
  3. COL4A3
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Unexplained kidney failure in young people

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: 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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal dominant, 104200
OMIM
120070
Clinvar variants
Variants in COL4A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Oct 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: COL4A3 were set to

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL4A3 were set to Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A3 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen COL4A3 was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services COL4A3 was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN COL4A3 was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green

16 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A3 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL4A3 was created by sleigh