ClinGen Dosage Sensitivity Curation Page
See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
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