Growth failure
Gene: GINS2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Sources: Literature
Created: 5 Sep 2021, 2:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome with craniosynostosis

Publications

34353863

Created: 5 Sep 2021, 2:32 a.m.

Panel version: 1.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Meier-Gorlin syndrome with craniosynostosis

OMIM

610609

Clinvar variants

Variants in GINS2

Penetrance

None

Publications

34353863

Panels with this gene

History Filter Activity

5 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gins2 has been classified as Red List (Low Evidence).

5 Sep 2021, Gel status: 1

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