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  2. Unexplained kidney failure in young people
  3. COL4A4
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Unexplained kidney failure in young people

Gene: COL4A4

Green List (high evidence)
COL4A4 (collagen type IV alpha 4 chain)
EnsemblGeneIds (GRCh38): ENSG00000081052
EnsemblGeneIds (GRCh37): ENSG00000081052
OMIM: 120131, Gene2Phenotype
COL4A4 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Changing to BOTH monoallelic and biallelic, autosomal or pseudoautosomal because it is associated with two relevant disorders one which shows biallelic and one which shows monoallelic inheritance ( Alport syndrome 2, autosomal recessive is AR and Hematuria, familial benign is AD).
Created: 26 Oct 2021, 10:44 a.m. | Last Modified: 26 Oct 2021, 10:44 a.m.
Panel Version: 1.98
Created: 26 Oct 2021, 10:44 a.m.
Last Modified: 26 Oct 2021, 10:44 a.m.
Panel version: 1.98

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 4 Aug 2016, 11:43 a.m.
Created: 4 Aug 2016, 11:43 a.m.

Panel version: 0.177

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
OMIM
120131
Clinvar variants
Variants in COL4A4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign to Alport syndrome 2, autosomal recessive, OMIM:203780; Hematuria,familial benign, OMIM:141200

26 Oct 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: COL4A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Oct 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: COL4A4 were set to 25381091

17 Oct 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: COL4A4 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 Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for COL4A4 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL4A4 were set to Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN COL4A4 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)

COL4A4 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)

COL4A4 was created by sleigh