Haematuria_Alport
Gene: COL4A4

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

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

AR Alport Syndrome: > 3 unrelated families (PMID: 24052634)
TBMN: > 3 unrelated families (PMID:12631110)
FSGS: 2 unrelated families (PMID: 17942953; 26346198)

There are reports suggesting heterozygous COL4A4 mutations can cause AD Alport Syndrome, but there is still uncertainty surrounding this observation (PMID: 30450445)
Created: 1 May 2020, 12:34 a.m. | Last Modified: 1 May 2020, 12:34 a.m.

Panel Version: 0.32

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, 203780; Thin basement membrane nephropathy (TBMN), AD; Focal segmental glomerulosclerosis (FSGS), AD

Publications

Created: 1 May 2020, 12:34 a.m.
Last Modified: 1 May 2020, 12:34 a.m.
Panel version: 0.32

Details

Mode of Inheritance

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

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Alport syndrome 2, autosomal recessive, 203780
Thin basement membrane nephropathy (TBMN), AD
Focal segmental glomerulosclerosis (FSGS), AD

Tags

Medicare

OMIM

120131

Clinvar variants

Variants in COL4A4

Penetrance

None

Publications

Panels with this gene