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Intellectual disability syndromic and non-syndromic

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 3 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Classified LIMITED by ClinGen ID and Autism GCEP on 19/10/2022 - https://search.clinicalgenome.org/CCID:004237

ClinGen GCEP downgraded evidence from Moderate to limited due to lack of additional human genetic evidence.
Created: 13 May 2024, 12:28 a.m. | Last Modified: 13 May 2024, 12:28 a.m.
Panel Version: 0.5798

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

  • https://search.clinicalgenome.org/CCID:004237

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 20 Apr 2020, 1:39 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 Amber
  • Literature
Phenotypes
  • Intellectual disability
  • autism
OMIM
605683
Clinvar variants
Variants in BAZ2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: baz2b has been classified as Amber List (Moderate 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: 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 Intellectual disability syndromic and non-syndromic. 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 Phenotypes for gene: BAZ2B were set to Intellectual disability; autism Review for gene: BAZ2B was set to GREEN