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DDG2P

Gene: HDAC3

Green List (high evidence)
HDAC3 (histone deacetylase 3)
EnsemblGeneIds (GRCh38): ENSG00000171720
EnsemblGeneIds (GRCh37): ENSG00000171720
OMIM: 605166, Gene2Phenotype
HDAC3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HDAC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:39047730). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03596.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease HDAC3-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 39047730).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0700092; HDAC3-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HDAC3-related neurodevelopmental disorder
Tags
de novo gene-checked
OMIM
605166
Clinvar variants
Variants in HDAC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: HDAC3 was changed from Other to None

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: HDAC3.

21 Feb 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: HDAC3.

21 Feb 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HDAC3 was added gene: HDAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HDAC3 were set to 39047730 Phenotypes for gene: HDAC3 were set to HDAC3-related neurodevelopmental disorder Mode of pathogenicity for gene: HDAC3 was set to Other