ClinGen Dosage Sensitivity Curation Page
ZFPM2
- Curation Status: Complete
- id: ISCA-9713
- Date last evaluated: 2012-04-04
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ZFPM2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/23414
- OMIM: https://omim.org/entry/603693
- ClinGen Haploinsufficiency Score: 2
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
Select assembly:
(NC_000008.10)
(NC_000008.11)
- Haploinsufficiency score: 2
- Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: DIAPHRAGMATIC HERNIA 3; DIH3
| 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