Intellectual disability update Jan 2018
Gene: HIST3H3

HIST3H3 (histone cluster 3 H3)
EnsemblGeneIds (GRCh38): ENSG00000168148
EnsemblGeneIds (GRCh37): ENSG00000168148
OMIM: 602820, Gene2Phenotype
HIST3H3 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Added new-gene-name tag, new approved HGNC gene symbol for HIST3H3 is H3-4
Created: 6 Sep 2019, 3:09 p.m. | Last Modified: 6 Sep 2019, 3:09 p.m.

Panel Version: 0.483

This is a possible DD gene in Gene2Phenotype for AUTOSOMAL RECESSIVE MENTAL RETARDATION, however the only publication describing ID associated to HIST3H3 is from a deep sequencing paper in 2011 (PMID: 21937992). Currently there is no further evidence in the literature to support the upgrading of this gene to support the intellectual disability.
Created: 19 Feb 2018, 5:24 p.m.

Created: 19 Feb 2018, 5:24 p.m.

Panel version: 0.483

Details

Sources

Expert Review Red

Tags

new-gene-name

OMIM

602820

Clinvar variants

Variants in HIST3H3

Penetrance

None

Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: HIST3H3.

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HIST3H3 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HIST3H3 was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: HIST3H3