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Gene: BAZ2B

Amber List (moderate evidence)

BAZ2B (bromodomain adjacent to zinc finger domain 2B)
EnsemblGeneIds (GRCh38): ENSG00000123636
EnsemblGeneIds (GRCh37): ENSG00000123636
OMIM: 605683, Gene2Phenotype
BAZ2B is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Initially highlighted as a candidate gene for ID/ASD by large-scale studies. In addition to these reports, recent case series (PMID: 31999386) reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad suggests possible ?incomplete penetrance. Additional reported features were inconsistent. Suggest also adding this gene to the ID panel.
Created: 20 Apr 2020, 2:05 a.m. | Last Modified: 20 Apr 2020, 2:05 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Intellectual disability; autism


Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene:
Created: 1 Apr 2019, 11:26 a.m.


Clinvar variants
Variants in BAZ2B
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene BAZ2B were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to BAZ2B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BAZ2B was added gene: BAZ2B was added to Autism. Sources: SFARI Mode of inheritance for gene: BAZ2B was set to