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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: GINS2

Red List (low evidence)

GINS2 (GINS complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000131153
EnsemblGeneIds (GRCh37): ENSG00000131153
OMIM: 610609, Gene2Phenotype
GINS2 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included.

GINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date. Rating Red, awaiting further evidence.
Sources: Literature
Created: 3 Sep 2021, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Meier-Gorlin syndrome with craniosynostosis



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • Meier-Gorlin syndrome with craniosynostosis
Clinvar variants
Variants in GINS2
Panels with this gene

History Filter Activity

3 Sep 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GINS2 was added gene: GINS2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS2 were set to 34353863 Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis Review for gene: GINS2 was set to RED