Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive Alport syndrome-2 (ATS2) is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Affected individuals often have progressive sensorineural hearing loss and characteristic ocular abnormalities. In the absence of treatment, renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease.

Monoallelic form causes Hematuria, familial benign, 1. Individuals with a heterozygous COL4A4 pathogenic variant have an estimated 50% incidence of persistent or intermittent microhematuria.

Variants in COL4A3 can be associated with either AR or AD disease. There is no specific association between the type of variant (e.g., missense, nonsense, splice site) and inheritance pattern.

Some evidence of digenic inheritance with COL4A3 (PMID: 25575550)
Created: 4 Sep 2024, 7:51 a.m. | Last Modified: 4 Sep 2024, 7:51 a.m.
Panel Version: 1.258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alport syndrome 2, autosomal recessive MIM# 203780

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome, autosomal recessive, 203780 (3)
OMIM
120131
Clinvar variants
Variants in COL4A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: col4a4 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: COL4A4 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A4

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A4 was added gene: COL4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)