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Intellectual disability

Gene: HIST1H4J

Amber List (moderate evidence)

HIST1H4J (histone cluster 1 H4 family member j)
EnsemblGeneIds (GRCh38): ENSG00000197238
EnsemblGeneIds (GRCh37): ENSG00000197238
OMIM: 602826, Gene2Phenotype
HIST1H4J is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Amber rating as additional cases are required to validate pathogenicity, but added to watchlist.
Created: 24 Jul 2020, 1:07 p.m. | Last Modified: 24 Jul 2020, 1:07 p.m.
Panel Version: 3.201
Added new-gene-name tag, new approved HGNC gene symbol is H4C11.

This is a possible gene for intellectual disability with facial dysmorphism in G2P.

Tessadori et al. (2020) (PMID: 31804630) reported a 14-year old Hispanic male with profound intellectual disability, who was heterozygous for a de novo (c.274 A>G, p.K91E) variant in HIST1H4J. Clinical features were said to resemble those reported in patients with HIST1H4C variants, which encodes an identical H4 protein to that of HIST1H4J. Functional data obtained in zebrafish showed the missense variant caused developmental defects, specifically resulting in defective head structures and reduced body axis length.
Created: 24 Jul 2020, 1:04 p.m. | Last Modified: 24 Jul 2020, 1:08 p.m.
Panel Version: 3.201

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

Phenotypes
Microcephaly; Intellectual disability; Dysmorphic facial features; Growth delay

Publications

Zornitza Stark (Australian Genomics)

I don't know

Single case report but with functional evidence in zebrafish and phenotypic similarity to HIST1H4C phenotype
Sources: Literature
Created: 3 Jun 2020, 11:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
microcephaly; intellectual disability; dysmorphic features

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • microcephaly
  • intellectual disability
  • dysmorphic features
OMIM
602826
Clinvar variants
Variants in HIST1H4J
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hist1h4j has been classified as Amber List (Moderate Evidence).

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HIST1H4J was added gene: HIST1H4J was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIST1H4J were set to 31804630 Phenotypes for gene: HIST1H4J were set to microcephaly; intellectual disability; dysmorphic features Review for gene: HIST1H4J was set to AMBER