ClinGen Dosage Sensitivity Curation Page
MGP
- Curation Status: Complete
- id: ISCA-34033
- Date last evaluated: 2021-02-08
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about MGP at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4256
- OMIM: https://omim.org/entry/245150
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.007
Select assembly:
(NC_000012.11)
(NC_000012.12)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
Haploinsufficiency phenotype comments:
Variants in MGP have been identified in individuals with Keutel syndrome (OMIM 154870), an autosomal recessive condition. Keutel syndrome has phenotypic features including pulmonary artery stenosis, brachytelephalangy, inner ear deafness, and cartilage calcification. See the following PMIDs: 29928182, 15810001, and 25123378.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity