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Haematuria
Gene: COL4A3

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

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COL4A3; Suggested initial gene rating: Green; Evidence for inclusion: PMID: 30506145; 29987460; 24052634 , Many relevant publications in pubmed.; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other comments: Does Ellen Thomas mean Glycine residues, rather than cystine residues in her PanelAPP comment?
Created: 3 Feb 2019, 3:19 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Alport syndrome, autosomal dominant #104200; Alport syndrome, autosomal recessive #203780; Hematuria, benign familial #141200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2019, 3:19 p.m.

Panel version: 1.18

Ellen Thomas (Genomics England Curator)

Comment on mode of pathogenicity: LOF mutations in collagen genes may cause a less severe phenotype than missense variants affecting particular residues (usually Cysteine). A curated set of known pathogenic variants could be made for this gene.
Created: 29 Jan 2016, 12:18 p.m.

Comment on mode of inheritance: Monoallelic status is also important for management so both should be reported.
Created: 29 Jan 2016, 12:16 p.m.

Created: 29 Jan 2016, 12:16 p.m.

Panel version: 0.14

Daniel Gale (UCL)

Green List (high evidence)

Biallelic disease usually causes Alport syndrome (kidney failure and deafness often in adolescence/early adulthood). Monoallelic disease causes autosomal dominant thin glomerular basement membrane nephropathy.
Created: 7 Oct 2015, 12:58 p.m.

Phenotypes
Alport syndrome; proteinuria; haematuria; FSGS

Publications

PMID: 17942953

Created: 7 Oct 2015, 12:58 p.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Evidence for digenic inheritance in Alport syndrome? See PMID: 25575550, COL4A3, COL4A4 and COL4A6 genes.
Created: 28 Aug 2015, 7:32 a.m.

Created: 28 Aug 2015, 7:32 a.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Eligibility statement prior genetic testing
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Alport syndrome, autosomal dominant OMIM:104200
Alport syndrome, autosomal recessive OMIM:203780
Hematuria, benign familial OMIM:141200

OMIM

120070

Clinvar variants

Variants in COL4A3

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; 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 dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200

17 Jun 2019, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL4A3 were set to 17942953

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL4A3. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 Jan 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for COL4A3 were set to 17942953

29 Jan 2016, Gel status: 3

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

Mode of pathogenicity for COL4A3 was changed to Other - please provide details in the comments

29 Jan 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for COL4A3 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

28 Aug 2015, Gel status: 3