Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: AXIN1

AXIN1 (axin 1)
EnsemblGeneIds (GRCh38): ENSG00000103126
EnsemblGeneIds (GRCh37): ENSG00000103126
OMIM: 603816, Gene2Phenotype
AXIN1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

PMID:28808027 reported an individual with sagittal synostosis and a de novo heterozygous variant in AXIN1 gene.
Sources: Literature
Created: 19 Jul 2023, 7:28 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 19 Jul 2023, 7:28 p.m.

Panel version: 4.107

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

603816

Clinvar variants

Variants in AXIN1

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: AXIN1 was added gene: AXIN1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: AXIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AXIN1 were set to 28808027; 36980886 Phenotypes for gene: AXIN1 were set to craniosynostosis, MONDO:0015469 Review for gene: AXIN1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: AXIN1