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STRs in panel
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COVID-19 research

Gene: GINS1

Green List (high evidence)

GINS1 (GINS complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000101003
EnsemblGeneIds (GRCh37): ENSG00000101003
OMIM: 610608, Gene2Phenotype
GINS1 is in 4 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

5 patients in 4 kindreds
Created: 11 Jun 2018, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intrauterine growth retardation; chronic neutropenia; NK cell deficiency

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): GINS1 .PanelApp HGNC gene symbol check: GINS1 . IUIS Disease: GINS1 deficiency . IUIS Inheritance: AR .T cells: Normal, .B cells: Low or normal, .IUIS Other affected cells: N/A. IUIS Associated features: Neutropenia, IUGR, NK cells very low. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support there more than three unrelated families (5 affected patients from 4 unrelated kindreds)
Created: 12 Jun 2018, 4:38 p.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 12 Jun 2018, 4:37 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 12 Jun 2018, 4:36 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green. From PMID: 28414293 5 patients from 4 unrelated kindreds studied were found to be compound heterozygous for only 4 rare variants.
Created: 12 Jun 2018, 4:36 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: GINS1, PanelApp HGNC gene symbol check: GINS1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / GINS1 deficiency / GINS1 deficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency 55, 617827
  • NK cell deficiency
  • chronic neutropenia
  • Neutropenia, IUGR, NK cells very low
  • GINS1 deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • intrauterine growth retardation
OMIM
610608
Clinvar variants
Variants in GINS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: GINS1 was added gene: GINS1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS1 were set to 28414293 Phenotypes for gene: GINS1 were set to Immunodeficiency 55, 617827; NK cell deficiency; chronic neutropenia; Neutropenia, IUGR, NK cells very low; GINS1 deficiency; Combined immunodeficiencies with associated or syndromic features; intrauterine growth retardation