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Intellectual disability

Gene: HDAC3

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark, PMID:39047730 reported the identification of de novo missense variants in HDAC3 gene in six unrelated individuals with neurodevelopmental disorder. Intellectual disability of varying severity was present in five of six patients (severe and moderate ID in two each and mild ID in one).

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

This gene should be promoted to green rating in the next GMS update.
Created: 13 Aug 2024, 4:22 p.m. | Last Modified: 13 Aug 2024, 4:22 p.m.
Panel Version: 7.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 13 Aug 2024, 4:15 p.m.
Last Modified: 13 Aug 2024, 4:15 p.m.
Panel version: 7.7

Zornitza Stark (Australian Genomics)

Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data.
Sources: Literature
Created: 2 Aug 2024, 7:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, HDAC3-related

Publications

Created: 2 Aug 2024, 7:29 a.m.

Panel version: 6.77

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
605166
Clinvar variants
Variants in HDAC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: HDAC3.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to HDAC3. Source Expert Review Green was added to HDAC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: hdac3 has been classified as Amber List (Moderate Evidence).

13 Aug 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HDAC3 were changed from Neurodevelopmental disorder, MONDO:0700092, HDAC3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

13 Aug 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: HDAC3.

2 Aug 2024, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HDAC3 was added gene: HDAC3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC3 were set to 39047730 Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related