ClinGen Dosage Sensitivity Curation Page
CBFB
- Curation Status: Complete
- id: ISCA-8907
- Date last evaluated: 2012-02-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about CBFB at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/865
- OMIM: https://omim.org/entry/121360
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.906
Select assembly:
(NC_000016.9)
(NC_000016.10)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
Of note, Khan et al. (2006) reported a boy with a de novo 16q21-q22 'cytogenetically visible' deletion and hemizygosity of the CBFB gene detected by FISH analysis. He had a cleft soft palate, delayed mineralization of the parietal bones, and mild dysmorphic features including hypertelorism, upslanting palpebral fissures, midface hypoplasia, and micrognathia. Khan et al. (2006) noted the phenotypic similarities to a Cbfb-deficient mouse model (PMID: 12434156) and suggested that CBFB hemizygosity in their patient may have led to the cranial ossification defects (PMID: 17022082).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
No literature regarding 'constitutional' duplication of this gene.