Intellectual disability
Gene: BAZ2B

BAZ2B (bromodomain adjacent to zinc finger domain 2B)
EnsemblGeneIds (GRCh38): ENSG00000123636
EnsemblGeneIds (GRCh37): ENSG00000123636
OMIM: 605683, Gene2Phenotype
BAZ2B is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Created: 21 Feb 2024, 7:33 p.m. | Last Modified: 21 Feb 2024, 7:33 p.m.

Panel Version: 5.456

PMID:37872713 reported three unrelated individuals with heterozygous copy number variants (127 kb, 217 kb and 1.23 Mb) and seven unrelated individuals with heterozygous small variants (stop-gain, frameshift, missense, splice junction, indel, and start-loss variants) affecting BAZ2B. The clinical presentations include developmental delay, intellectual disability, autism spectrum disorder, speech delay, behavioural abnormalities, seizures, vision-related issues, congenital heart defects, poor foetal growth and dysmorphic features.

All ten individuals had developmental delay. Two of three individuals with CNVs had mild or moderate ID, while third individual had global developmental delay. Of seven individuals with small variants, three had intellectual disability (one had mild ID).

This gene has already been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
Created: 21 Feb 2024, 7:28 p.m. | Last Modified: 21 Feb 2024, 7:28 p.m.

Panel Version: 5.453

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

37872713

Created: 21 Feb 2024, 7:28 p.m.
Last Modified: 21 Feb 2024, 7:28 p.m.
Panel version: 7.41

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

BAZ2B gene is intolerant to LoF variants in population (pLI=1) and PMID: 31999386 described that de novo LoF variants are statistically enriched among NDD cases & summarize 10 cases. Enough evidence for the green rating.
Sources: Literature
Created: 26 Jan 2024, 1:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental delay, intellectual disability and autism spectrum disorder

Publications

PMID: 31999386

Created: 26 Jan 2024, 1:31 p.m.

Panel version: 5.409

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

neurodevelopmental disorder, MONDO:0700092
intellectual disability, MONDO:0001071

Tags

gene-checked

OMIM

605683

Clinvar variants

Variants in BAZ2B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: BAZ2B.

26 Sep 2024, Gel status: 3