Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: HIST3H3

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HIST3H3 is H3-4
Created: 6 Sep 2019, 3:10 p.m. | Last Modified: 6 Sep 2019, 3:10 p.m.
Panel Version: 1.80

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
new-gene-name
OMIM
602820
Clinvar variants
Variants in HIST3H3
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
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.

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: HIST3H3 was added gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST3H3 were set to 21937992 Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments