ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: RETINITIS PIGMENTOSA 54; RP54

Haploinsufficiency phenotype comments:

Mutations of C2orf71 are associated with autosomal recessive retinitis pigmentosa. Of note, Khatep et al. (2014) described multiple family members who carry one copy (heterozygous) of a C2orf71 nonsense mutation along with two copies (homozygous) of nonsense CEP250 mutations, who presented with an atypical form of Usher syndrome with relatively mild retinitis pigmentosa (RP). RP has been shown to be a recessive condition as well as a multigenic trait where the additive effect of the genotypes at multiple loci can cause RP. However, in this family the RP phenotype was only seen in the family members homozygous for CEP250 and heterozygous for C2orf761 and not seen in the one family member heterozygous for both C2orf71 and CEP250. (PMID: 24780881)

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