Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GLIS3

GLIS3 (GLIS family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000107249
EnsemblGeneIds (GRCh37): ENSG00000107249
OMIM: 610192, Gene2Phenotype
GLIS3 is in 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

One patient was described with a variant in GLIS3 and sagittal craniosynostosis requiring surgical intervention. The patient harboured a homozygous deletion of exons 9 – 11; consanguinity was not confirmed but suspected (PMID:26259131).
Sources: Literature
Created: 22 Jul 2023, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 9:47 a.m.

Panel version: 4.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

610192

Clinvar variants

Variants in GLIS3

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: GLIS3 was added gene: GLIS3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS3 were set to 26259131; 36980886 Phenotypes for gene: GLIS3 were set to craniosynostosis, MONDO:0015469 Review for gene: GLIS3 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: GLIS3