Autism
Gene: BAZ2B
BAZ2B (bromodomain adjacent to zinc finger domain 2B)
EnsemblGeneIds (GRCh38): ENSG00000123636
EnsemblGeneIds (GRCh37): ENSG00000123636
OMIM: 605683, Gene2Phenotype
BAZ2B is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000123636
EnsemblGeneIds (GRCh37): ENSG00000123636
OMIM: 605683, Gene2Phenotype
BAZ2B is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Postulated as a candidate gene for ID/ASD by large-scale studies. Case series 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 ?incomplete penetrance. Additional reported features were inconsistent
Sources: LiteratureCreated: 20 Apr 2020, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability; autism
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Intellectual disability
- autism
- OMIM
- 605683
- Clinvar variants
- Variants in BAZ2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: baz2b has been classified as Green List (High Evidence).
20 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: baz2b has been classified as Green List (High Evidence).
20 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BAZ2B was added gene: BAZ2B was added to Autism. Sources: Literature Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768 Phenotypes for gene: BAZ2B were set to Intellectual disability; autism Review for gene: BAZ2B was set to GREEN