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Intellectual disability

Gene: HIST1H4B

Red List (low evidence)

HIST1H4B (histone cluster 1 H4 family member b)
EnsemblGeneIds (GRCh38): ENSG00000278705
EnsemblGeneIds (GRCh37): ENSG00000124529
OMIM: 602829, Gene2Phenotype
HIST1H4B is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Added new-gene-name tag, new approved HGNC gene symbol for HIST1H4B is H4C2
Created: 6 Sep 2019, 3:26 p.m. | Last Modified: 6 Sep 2019, 3:26 p.m.
Panel Version: 2.1022
This is a possible DD gene in Gene2Phenotype for AUTOSOMAL RECESSIVE MENTAL RETARDATION, however the only publication describing ID associated to HIST1H4Bis 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, 5:28 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
new-gene-name
OMIM
602829
Clinvar variants
Variants in HIST1H4B
Penetrance
Complete
Publications
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: HIST1H4B.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HIST1H4B was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HIST1H4B was added to Intellectual disabilitypanel. Sources: Expert Review Red