ClinGen Dosage Sensitivity Curation Page
GBA
- Curation Status: Complete
- id: ISCA-21696
- Date last evaluated: 2016-08-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about GBA at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/2629
- OMIM: https://omim.org/entry/608013
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1269/?term=GBA
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.034
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
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
Duplication and fusion alleles found in the 3? region of GBA have been mediated by local duplicons (i.e. LCRs). Although, it could not be established whether different mechanisms or sites of recombination result in Gaucher disease, but it could potentially have a modifying effect on phenotype. However no whole gene duplications of GBA have been reported to result in the Gaucher phenotype. see PMIDs: 12587096, 18338393