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  3. COL4A4
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Proteinuria

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Genereviews PMID: 20301386

5-8% of Alport is due to variants in COL4A4, 45% AR is and 55% AD
Created: 4 May 2022, 12:31 a.m. | Last Modified: 4 May 2022, 12:31 a.m.
Panel Version: 0.13666

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

Phenotypes
Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200

Publications

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

Created: 4 May 2022, 12:31 a.m.
Last Modified: 4 May 2022, 12:31 a.m.
Panel version: Imported from Mendeliome panel version 0.13666

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
120131
Clinvar variants
Variants in COL4A4
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A4 was added gene: COL4A4 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A4 was set to Unknown