Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ARAP3

ARAP3 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3)
EnsemblGeneIds (GRCh38): ENSG00000120318
EnsemblGeneIds (GRCh37): ENSG00000120318
OMIM: 606647, Gene2Phenotype
ARAP3 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

PMID:28808027 reported an individual identified with a de novo variant in ARAP3 (IVS6+1delGT) and presenting with metopic synostosis. As there is only one case reported so far, this gene should be rated red.
Sources: Literature
Created: 19 Jul 2023, 7:20 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 19 Jul 2023, 7:20 p.m.

Panel version: 4.106

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

606647

Clinvar variants

Variants in ARAP3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ARAP3 was added gene: ARAP3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARAP3 were set to 28808027; 36980886 Phenotypes for gene: ARAP3 were set to craniosynostosis, MONDO:0015469 Review for gene: ARAP3 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: ARAP3