ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

Loss of function mutations in COL4A3 are a cause of autosomal recessive Alport syndrome. Heterozygous carriers have a 50% chance to develop hematuria and thin basement membrane nephropathy. This has historically been considered a benign condition but there is some evidence that these individuals can progress to end-stage renal disease. There is also one report of a heterozygous mutation causing autosomal dominant Alport syndrome (vander Loop, 2000, PMID:11044206) but this was a splicing mutation causing an in-frame deletion and the resulting protein incorporated into the collagen strands and had a dominant-negative effect. See Gene Reviews.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity