ClinGen Dosage Sensitivity Curation Page
ARHGAP31
- Curation Status: Complete
- id: ISCA-19647
- Date last evaluated: 2013-07-18
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ARHGAP31 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/57514
- OMIM: https://omim.org/entry/610911
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
Select assembly:
(NC_000003.11)
(NC_000003.12)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
Southgate L PMID: 21565291 ? two unrelated pedigrees showed co-segregation of dominant nonsense mutations with Adams-Oliver syndrome 1 (OMIM 100300). Each family had a distinct mutation however both affect the terminal coding exon. Expression analysis of the mutation carriers did not show a reduction in transcript levels. The authors suggest these variants are dominant gain of function mutations. There is no significant evidence of an association between deletion of this gene and an abnormal phenotype.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
No focal duplications of this gene have been reported to be associated with an abnormal phenotype at the time of this review.