Prepair 1000+

Gene: COL4A4

Green List (high evidence)

Autosomal recessive Alport syndrome-2 (ATS2) is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Affected individuals often have progressive sensorineural hearing loss and characteristic ocular abnormalities. In the absence of treatment, renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease.

Monoallelic form causes Hematuria, familial benign, 1. Individuals with a heterozygous COL4A4 pathogenic variant have an estimated 50% incidence of persistent or intermittent microhematuria.

Variants in COL4A3 can be associated with either AR or AD disease. There is no specific association between the type of variant (e.g., missense, nonsense, splice site) and inheritance pattern.

Some evidence of digenic inheritance with COL4A3 (PMID: 25575550)

Created: 4 Sep 2024, 7:51 a.m. | Last Modified: 4 Sep 2024, 7:51 a.m.

Panel Version: 1.258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alport syndrome 2, autosomal recessive MIM# 203780

Publications

• PMID: 20301386