ClinGen Dosage Sensitivity Curation Page

ATP2C2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
25296922 Smith et al. (2015): Case report of 10 year old boy with specific language impairment. Patient has a 159Kb deletion that includes ATP2C2 as well as a second gene, TLDC1. The deletion was found to be de novo. ATP2C2 is a candidate gene for specific language impairment based on GWAS studies [PMID: 19646677]. The authors propose a neurobiological role of the ATP2C2 gene in specific language impairment through effects on the development of phonologic short-term memory.

Haploinsufficiency phenotype comments:

ATP2C2 is a candidate gene for specific language impairment and dyslexia based primarily on GWAS studies. Evidence to support haploinsufficiency of this gene alone is currently lacking.

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