ClinGen Dosage Sensitivity Curation Page

ATP6V1E1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000022.10) (NC_000022.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There is no disease associated with mutations in this gene. No human mutations have been reported.

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

Triplosensitivity phenotype comment:

There is no disease associated with mutations in this gene. No human mutations have been reported. Note: There is a recent case report of a single patient with a 600Kb triplication involving ATP6V1E1 and two flanking genes (see PMID: 22395867). The triplication segregated in a thee-generation family with anal atresia and preauricular tags or pits - clinical manifestations overlapping CES.