Haematuria

Gene: COL4A5

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 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, Many relevant publications in pubmed; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided;

Created: 3 Feb 2019, 3:19 p.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

Comment on mode of pathogenicity: Missense mutations affecting Cysteine residues may have a greater effect than LOF mutations. A curated list of known pathogenic variants would be possible to put together.

Created: 29 Jan 2016, 12:32 p.m.

Comment on list classification: COL4A5 causes X-linked Alports with a lesser phenotype possible in carrier females.

Created: 29 Jan 2016, 12:31 p.m.

Green List (high evidence)

Heterozygous females may exhibit isolated microscopic haematuria, or may also develop proteinuria and renal impairment in later life. Hemizygous males usually have Alport syndrome.

Created: 7 Oct 2015, 1:02 p.m.

Phenotypes
Alport syndrome; proteinuria; haematuria; FSGS

Publications

• PMID: 14514738