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  2. Unexplained kidney failure in young people
  3. COL4A5
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Unexplained kidney failure in young people

Gene: COL4A5

Green List (high evidence)
COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 11:44 a.m.
Created: 4 Aug 2016, 11:44 a.m.

Panel version: 0.178

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alport syndrome 301050
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL4A5 were changed from Alport syndrome 301050 to Alport syndrome 301050

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).

4 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL4A5 were set to Alport syndrome 301050

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL4A5 were set to Alport syndrome, 301050; diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A5 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen COL4A5 was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN COL4A5 was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL4A5 was created by sleigh

16 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A5 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing