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DDG2P

Gene: H3F3B

Green List (high evidence)
H3F3B (H3 histone family member 3B)
EnsemblGeneIds (GRCh38): ENSG00000132475
EnsemblGeneIds (GRCh37): ENSG00000132475
OMIM: 601058, Gene2Phenotype
H3F3B is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03308.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
Added new-gene-name tag, new approved HGNC gene symbol for H3F3B is H3-3B.
Created: 16 Oct 2023, 3:24 p.m. | Last Modified: 16 Oct 2023, 3:24 p.m.
Panel Version: 3.73
The DDG2P confidence category for the disease H3F3B associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33268356).
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
OMIM:619721.0; H3-3B-related neurodevelopmental disorder; MONDO:0030607; H3F3B associated neurodevelopmental disorder

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • H3F3B associated neurodevelopmental disorder
Tags
new-gene-name
OMIM
601058
Clinvar variants
Variants in H3F3B
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: H3F3B was changed from Other to None

6 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: H3F3B.

4 Oct 2023, 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: H3F3B was added gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3B were set to 33268356 Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder Mode of pathogenicity for gene: H3F3B was set to Other