Proteinuric renal disease
Gene: COL4A4
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: COL4A4; 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
Publications
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 is an important disease not to miss.Created: 16 May 2016, 8:23 p.m.
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, 10:38 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
Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive, OMIM:203780; Hematuria,familial benign, OMIM:141200
Publications for gene: COL4A4 were set to
Source NHS GMS was added to COL4A4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL4A4 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COL4A4 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
COL4A4 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing