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  3. BAZ2B
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Fetal anomalies

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

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

PMID 31999386/37872713: 10 unrelated individuals with heterozygous deletions, stop-gain, frameshift, missense, splice junction, indel, and start-loss variants. Phenotypes include developmental delay, intellectual disability, autism spectrum disorder, seizures, vision issues, congenital heart defects, poor fetal growth, and dysmorphic features. Green on ID panel. Limited prenatal phenotype, primarily poor growth (IUGR in patient 6, small for gestational age at birth patients 1,4,8) and heart defects (patient 2 atrioventricular canal defect on ultrasound, patient 4 PFO, PDA and bicuspid valve diagnosed neonatally). No abnormalities noted in pregnancy or no information in patients 3,5,7,9. Some variants inherited from unaffected parents.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Complex neurodevelopmental disorder

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Complex neurodevelopmental disorder
OMIM
605683
Clinvar variants
Variants in BAZ2B
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Complex neurodevelopmental disorder for gene: BAZ2B

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: BAZ2B was added gene: BAZ2B was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted