Skeletal dysplasia

Gene: CBFB

Green List (high evidence)

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: 26 Sep 2024, 3:01 p.m. | Last Modified: 26 Sep 2024, 3:01 p.m.

Panel Version: 6.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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

Green List (high evidence)

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: Literature

Created: 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