1. Panels
  2. Severe microcephaly
  3. GINS2
Genes in panel
Prev Next
STRs in panel
Prev Next

Severe microcephaly

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

2 reviews

Ivone Leong (Genomics England Curator)

This gene has been copied from the Growth failure panel (panel ID:473), as the Severe microcephaly panel appears to be a better fit for the phenotype. As there is only 1 reported case this gene has been given a Red rating.
Created: 29 Jul 2022, 11:03 a.m. | Last Modified: 29 Jul 2022, 11:03 a.m.
Panel Version: 2.310
Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association and other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel due to the phenotype being not fitting the scope of this panel. Therefore, this gene has been given a Red rating.
Created: 29 Jul 2022, 11 a.m. | Last Modified: 29 Jul 2022, 11:02 a.m.
Panel Version: 2.310
Created: 29 Jul 2022, 11 a.m.
Last Modified: 29 Jul 2022, 11:02 a.m.
Copied from panel: Growth failure in early childhood v1.107

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

1 patient with biallelic variant and functional studies reported in pmid:34353863
Sources: Literature
Created: 25 May 2022, 2:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome like

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 25 May 2022, 2:52 p.m.

Copied from panel: Growth failure in early childhood v1.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome like
  • Meier-Gorlin syndrome, MONDO:0016817
OMIM
610609
Clinvar variants
Variants in GINS2
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jul 2022, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GINS2 was added gene: GINS2 was added to Severe microcephaly. Sources: Literature,Expert Review Red 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 like; Meier-Gorlin syndrome, MONDO:0016817 Penetrance for gene: GINS2 were set to unknown Mode of pathogenicity for gene: GINS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments