ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
16103912 Missense mutations and one nonsense mutation in ZFPM2 in two individuals with tetralogy of Fallot and double outlet right ventricle / congenital diaphragmatic hernia
21525063 Two probands with deletion involving ZFPM2 only or part of ZFPM2 and first exon of adjacent gene OXR1. Probands had congenital diaphragmatic hernia.

Haploinsufficiency phenotype comments:

Of note, partial deletions of ZFPM2 within larger deletions in 8q22.2q22.3 in two patients with developmental delay, dysmorphic features, and other anomalies. Individuals with ZFPM2 partial deletion had diaphragmatic hernia also, fitting the expected phenotype for ZFPM2 loss of function (PMID 21739578).

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