ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
20683487 The authors in Cacciagli et al (PMID 20683487) describe an individual with a de novo 10;13 translocation that disrupts ATP8A2 with severe intellectual disability and hypotonia. Break point sequencing identified the disruption on chromosome 13, while no coding regions on chromosome 10 were disrupted. The authors compare the expression in mouse studies and show this gene is highly expressed in brain tissues, and suggest haploinsufficiency may result in the phenotype.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity