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  3. GINS3
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Fetal anomalies

Gene: GINS3

Green List (high evidence)
GINS3 (GINS complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green in microcephaly panel - red in short stature (says phenotype does not meet criteria for panel). PMID 35603789 7 individuals from 5 families with hypomorphic variant affecting same codon p.D24 with functional evidence reported. 3/7 IUGR, 1/7 hypertelorism 3/7 prominent forehead, microcephaly postnatal. Green?
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome
Tags
gene-checked
OMIM
610610
Clinvar variants
Variants in GINS3
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: GINS3.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Meier-Gorlin syndrome for gene: GINS3

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: GINS3 was added gene: GINS3 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal