Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GLI2

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo GLI2 variant (p.Ala551Thr) was identified in an individual with syndromic craniosynostosis (PMID:31292255).
Sources: Literature
Created: 22 Jul 2023, 9:39 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 9:39 a.m.

Panel version: 4.129

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

165230

Clinvar variants

Variants in GLI2

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: GLI2 was added gene: GLI2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLI2 were set to 31292255; 36980886 Phenotypes for gene: GLI2 were set to craniosynostosis, MONDO:0015469 Review for gene: GLI2 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: GLI2