ClinGen Dosage Sensitivity Curation Page

ZNF407

  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There is insufficient evidence to suggest haploinsuffuiciency or warrant targeted coverage of this gene. Of note, one study describes one 18q deletion syndrome clinical report with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. A combination of three 18q deletions defined a minimum region of overlap spanning 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1 (PMID: 16639285)

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

Triplosensitivity phenotype comment:

No Literature Identified.