ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: Nonsyndromic Genetic Deafness

Haploinsufficiency phenotype comments:

One homozygous nonsense variant has been reported in the MSRB3 gene in a proband with autosomal recessive nonsyndromic deafness (Ahmed et al. 2011 PMID21185009). The overall evidence that MSRB3, when altered, causes autosomal recessive nonsyndromic hearing loss has been Expert reviewed as Moderate by the ClinGen Hearing Loss Gene Curation Working Group in 11/2017. Based on the lack of probands segregating with autosomal dominant phenotypes and loss of function variants in the MSRB3 gene, the haploinsufficiency score is 30:Gene associated with autosomal recessive phenotype.

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