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DDG2P

Gene: H3F3A

Green List (high evidence)
H3F3A (H3 histone family member 3A)
EnsemblGeneIds (GRCh38): ENSG00000163041
EnsemblGeneIds (GRCh37): ENSG00000163041
OMIM: 601128, Gene2Phenotype
H3F3A is in 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 31942419, 33057194, 33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02443.
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 H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33057194;31942419;33268356).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease H3F3A associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33268356). The DDG2P confidence category for the disease Craniofacial with neurodevelopment disorders is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 33057194;31942419).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome; MONDO:0030606; H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720; OMIM:619720.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating to Green as H3F3A is listed in Gene2Phenotype under the new gene name, H3-3A.

Associated with 'Craniofacial with neurodevelopment disorders' with a disease confidence rating of 'confirmed'
Created: 22 Dec 2020, 3:01 p.m. | Last Modified: 22 Dec 2020, 3:01 p.m.
Panel Version: 2.15
Added new-gene-name tag, new approved HGNC gene symbol for H3F3A is H3-3A
Created: 22 Dec 2020, 2:56 p.m. | Last Modified: 22 Dec 2020, 2:56 p.m.
Panel Version: 2.14
Created: 22 Dec 2020, 2:56 p.m.
Last Modified: 22 Dec 2020, 2:56 p.m.
Panel version: 2.14

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders.
Created: 8 Jan 2019, 11:24 a.m.
Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720
Tags
new-gene-name
OMIM
601128
Clinvar variants
Variants in H3F3A
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: H3F3A was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: H3F3A were changed from Craniofacial with neurodevelopment disorders to H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356

22 Dec 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: H3F3A were set to

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: h3f3a has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: H3F3A.

29 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

8 Jan 2019, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: h3f3a has been removed from the panel.

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: H3F3A was added gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments