Cleidocranial Dysplasia
Gene: CBFBEnsemblGeneIds (GRCh38): ENSG00000067955
EnsemblGeneIds (GRCh37): ENSG00000067955
OMIM: 121360, Gene2Phenotype
CBFB is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 10:41 a.m. | Last Modified: 6 Dec 2024, 10:41 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
CBFB variant have been associated with Cleidocranial dysplasia 2 (OMIM:620099) and as moderate Gen2Phen gene for CBFB-related cleidocranial dysplasia. PMID: 36241386 reports five CBFB variants in eight individuals from five unrelated families with Cleidocranial dysplasia 2.Created: 4 Jun 2024, 9:25 a.m. | Last Modified: 4 Jun 2024, 9:25 a.m.
Panel Version: 1.1
Alistair Pagnamenta (University of Oxford)
Beyltjens et al describe 8 individuals from 5 families (ascertained via GeneMatcher) with cleidocranial dysplasia and rare severe consequence variants in CBFB. Previous analysis of RUNX2 had been negative. CBFB encodes the core-binding factor β subunit, which can interact with RUNX2 to form a heterodimeric transcription factor - so biologically was a good candidate gene, even before the Beyltjens et al study. Aware of data in 100kGP that supports this new gene-disease association.
Sources: LiteratureCreated: 16 May 2024, 10:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges
Publications
- PMID: 36241386
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cleidocranial dysplasia 2, OMIM:620099
- cleidocranial dysplasia 2, MONDO:0859307
- OMIM
- 121360
- Clinvar variants
- Variants in CBFB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: CBFB. Tag Q2_24_MOI was removed from gene: CBFB. Tag Q2_24_NHS_review was removed from gene: CBFB.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to CBFB. Source NHS GMS was added to CBFB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CBFB were changed from cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges to Cleidocranial dysplasia 2, OMIM:620099; cleidocranial dysplasia 2, MONDO:0859307
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CBFB were set to PMID: 36241386
Added Tag, Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: CBFB. Tag Q2_24_MOI tag was added to gene: CBFB. Tag Q2_24_NHS_review tag was added to gene: CBFB.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cbfb has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alistair Pagnamenta (University of Oxford)gene: CBFB was added gene: CBFB was added to Cleidocranial Dysplasia. Sources: Literature Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBFB were set to PMID: 36241386 Phenotypes for gene: CBFB were set to cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges Penetrance for gene: CBFB were set to Complete Review for gene: CBFB was set to GREEN gene: CBFB was marked as current diagnostic