Proteinuric renal disease

Gene: COL4A3

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 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 ;

Created: 4 Feb 2019, 10:41 a.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

• PMID: 30506145
• 29987460
• 24052634

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

Comment on list classification: Alport's presents with haematuria before proteinuria, but this would be important not to miss.

Created: 16 May 2016, 8:21 p.m.

Green List (high evidence)

Gene included in current UK panel test

Created: 19 Oct 2015, 1 p.m.

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

Phenotypes
Alports, Familial benign haematuria

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

Green List (high evidence)

Heterozygous mutations are associated with haematuria and thin or abnormal glomerular basement membranes. In later life approximately 15-20% mutation carriers develop proteinuric renal disease, sometimes with FSGS and kidney failure. Biallelic mutation is associated with Alport Syndrome.

Created: 7 Oct 2015, 10:37 a.m.

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

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