Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: HIST1H1E

HIST1H1E (histone cluster 1 H1 family member e)
EnsemblGeneIds (GRCh38): ENSG00000168298
EnsemblGeneIds (GRCh37): ENSG00000168298
OMIM: 142220, Gene2Phenotype
HIST1H1E is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A patient with syndromic unilambdoid synostosis was found to harbour a frameshifting variant in HIST1H1E (c.433_434insC; p.Thr146Hisfs*50). The variant is reported as pathogenic for Rahman syndrome in ClinVar and absent from gnomAD (PMID:36118902).
Sources: Literature
Created: 22 Jul 2023, 1:12 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 1:12 p.m.

Panel version: 4.135

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

Tags

new-gene-name

OMIM

142220

Clinvar variants

Variants in HIST1H1E

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HIST1H1E was added gene: HIST1H1E was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature new-gene-name tags were added to gene: HIST1H1E. Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H1E were set to 36118902; 36980886 Phenotypes for gene: HIST1H1E were set to craniosynostosis, MONDO:0015469 Review for gene: HIST1H1E was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: HIST1H1E