Monogenic short stature
Gene: GINS3

GINS3 (GINS complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

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 enough evidence to support a gene-disease association; however, other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel (Growth failure) due to the phenotype not fitting the scope of this panel. Therefore, this gene has been given a Red rating and will be moved to the Severe microcephaly panel (panel ID: 162), where it should be promoted to be Green status at the next review. GINS3 variants might act in a dominant-negative way.
Created: 29 Jul 2022, 12:57 p.m. | Last Modified: 29 Jul 2022, 12:57 p.m.

Panel Version: 1.108

Created: 29 Jul 2022, 12:57 p.m.
Last Modified: 29 Jul 2022, 12:57 p.m.
Copied from panel: Growth failure in early childhood v3.78

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

7 individuals from 5 families with hypomorphic variant affecting same codon p.D24 with functional evidence reported in PMID:35603789. Enough evidence for green list.
Sources: Literature
Created: 25 May 2022, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome like

Publications

35603789

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, 2:55 p.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature
Expert Review Red

Phenotypes

Meier-Gorlin syndrome like
Meier-Gorlin syndrome, MONDO:0016817

Tags

gene-checked

OMIM

610610

Clinvar variants

Variants in GINS3

Penetrance

unknown

Publications

35603789

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

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GINS3 was added gene: GINS3 was added to Monogenic short stature. Sources: Expert Review Red,Literature gene-checked tags were added to gene: GINS3. Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 Penetrance for gene: GINS3 were set to unknown Mode of pathogenicity for gene: GINS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Monogenic short stature Gene: GINS3