ClinGen Dosage Sensitivity Curation Page

ATP7B

  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: WILSON DISEASE

Haploinsufficiency phenotype comments:

Mameli et al (2015, PMID: 26031236) describe a homozygous 3 kb deletion of exons 1 and 2 in a patient with Wilson's disease. Incollu et al (2011, PMID: 21925265) describe a patient with a homozygous 8.7 kb deletion of exons 2-4.

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