ClinGen Dosage Sensitivity Curation Page
SLC2A10
- Curation Status: Complete
- id: ISCA-13504
- Date last evaluated: 2018-02-01
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SLC2A10 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/81031
- OMIM: https://omim.org/entry/606145
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.008
Select assembly:
(NC_000020.10)
(NC_000020.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: ARTERIAL TORTUOSITY SYNDROME; ATORS
Haploinsufficiency phenotype comments:
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity