Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: RASAL2

RASAL2 (RAS protein activator like 2)
EnsemblGeneIds (GRCh38): ENSG00000075391
EnsemblGeneIds (GRCh37): ENSG00000075391
OMIM: 606136, Gene2Phenotype
RASAL2 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was described with sagittal synostosis and a de novo variant in RASAL2 (p.Arg571Pro) (PMID:28808027)
Sources: Literature
Created: 23 Jul 2023, 6:02 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 6:02 p.m.

Panel version: 4.155

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

606136

Clinvar variants

Variants in RASAL2

Penetrance

None

Publications

Panels with this gene

Rare syndromic craniosynostosis or isolated multisuture synostosis

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RASAL2 was added gene: RASAL2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: RASAL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASAL2 were set to 28808027; 36980886 Phenotypes for gene: RASAL2 were set to craniosynostosis, MONDO:0015469 Review for gene: RASAL2 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: RASAL2