ClinGen Dosage Sensitivity Curation Page
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BCR
- Curation Status: Complete
- id: ISCA-10776
- Date last evaluated: 2012-07-10
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about BCR at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/613
- OMIM: https://omim.org/entry/151410
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- See related regions:
- 22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1)
- 22q11.2 recurrent region (distal type II, E-F)
- 22q11.2 recurrent region (distal type I, D-E/F)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
There have been deletions reported that include the BCR gene along with other genes (Mikhail et al., 2007; Madan et al., 2010). However, no deletions or mutations of only this gene have been reported at this time. A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. Chronic myelogenous leukemia is not an appropriate phenotype for our purposes.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity