Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: H3F3A

H3F3A (H3 histone family member 3A)
EnsemblGeneIds (GRCh38): ENSG00000163041
EnsemblGeneIds (GRCh37): ENSG00000163041
OMIM: 601128, Gene2Phenotype
H3F3A is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

In a cohort of 33 patients with H3F3A variants and 13 patients with H3F3B variants, 9/33 (~30%) individuals with H3F3A variants were reported with “craniosynostosis or abnormal head shape”. Of these, it is not clear if these were radiologically confirmed and what proportion of this subset of patients had synostosis compared to dysmorphic features (PMID:33268356).
Sources: Literature
Created: 22 Jul 2023, 12:51 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 12:51 p.m.

Panel version: 4.132

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

601128

Clinvar variants

Variants in H3F3A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: H3F3A was added gene: H3F3A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3A were set to 33268356; 36980886 Phenotypes for gene: H3F3A were set to craniosynostosis, MONDO:0015469 Review for gene: H3F3A was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: H3F3A