ClinGen Dosage Sensitivity Curation Page

ZWILCH

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
25363768 In an exome sequencing study, Iossifov et al identified a de novo frameshift variant in the ZWILCH gene in one patient with autism spectrum disorder.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

To our knowledge, no focal duplications involving the ZWILCH gene have been reported.