Proteinuric renal disease

Gene: COL4A5

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: COL4A5; Suggested initial gene rating: green; Evidence for inclusion: PMID: 29987460; 29270492;

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

• PMID: 29987460
• 29270492

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

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Alports, Familial benign haematuria

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

Comment on list classification: Alport syndrome presents with haematuria before proteinuria, but this is an important diagnosis not to miss.

Created: 16 May 2016, 8:23 p.m.

Green List (high evidence)

Heterozygous females often have haematuria and may also exhibit proteinuria with kidney biopsy showing proliferative glomerulonephritis or FSGS with abnormal (usually thinned) glomerular basement membranes. Hemizygous males usually develop Alport syndrome with kidney failure typically in adolescence/early adulthood.

Created: 7 Oct 2015, 11:28 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Alport syndrome; proteinuria; haematuria; FSGS

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