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  3. CBFB
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DDG2P

Gene: CBFB

Green List (high evidence)
CBFB (core-binding factor beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000067955
EnsemblGeneIds (GRCh37): ENSG00000067955
OMIM: 121360, Gene2Phenotype
CBFB is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CBFB-related cleidocranial dysplasia are moderate, monoallelic_autosomal and undetermined (PMID:36241386). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03513.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CBFB-related cleidocranial dysplasia is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 36241386).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:620099.0; CBFB-related cleidocranial dysplasia; MONDO:0859307

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CBFB-related cleidocranial dysplasia
OMIM
121360
Clinvar variants
Variants in CBFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CBFB was changed from Other to None

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CBFB was added gene: CBFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBFB were set to 36241386 Phenotypes for gene: CBFB were set to CBFB-related cleidocranial dysplasia Mode of pathogenicity for gene: CBFB was set to Other