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.
TBCE
- Curation Status: Complete
- id: ISCA-10133
- Date last evaluated: 2012-05-17
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about TBCE at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/6905
- OMIM: https://omim.org/entry/604934
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000001.10)
(NC_000001.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
Haploinsufficiency phenotype comments:
Changes in this gene are associated with autosomal recessive hypoparathyroidism-retardation-dysmorphism syndrome (OMIM: 241410)
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity