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Fetal anomalies

Gene: HDAC2

Amber List (moderate evidence)
HDAC2 (histone deacetylase 2)
EnsemblGeneIds (GRCh38): ENSG00000196591
EnsemblGeneIds (GRCh37): ENSG00000196591
OMIM: 605164, Gene2Phenotype
HDAC2 is in 1 panel

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

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

Not omim morbid, not on any panels. Other HDAC genes associated with disease inc CdL, CDP, neurodevelopmental disorder. Martinez et al 2017 1 de novo variant ID cohort ?exact phenotype. Wagner et al 2019 - single patient with a de novo variant and CdL phenotype (severe ID, dysmorphic, polydactyly, ToF, chiari). Di Fede et al 2024 - de novo frameshift in patient with clinical diagnosis of RTS incl facial dysmorphism, broad hallux, ID, vertebral anomalies, hypoplasia of CC. Was some supporting functional data.
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
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
  • neurodevelopmental disorder
OMIM
605164
Clinvar variants
Variants in HDAC2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes neurodevelopmental disorder for gene: HDAC2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: HDAC2 was added gene: HDAC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted