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Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • GINS1 deficiency
  • intrauterine growth retardation
  • chronic neutropenia
  • NK cell deficiency
  • Immunodeficiency 55, 617827
  • Neutropenia, IUGR, NK cells very low
  • Combined immunodeficiencies with associated or syndromic features
OMIM
610608
Clinvar variants
Variants in GINS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GINS1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to GINS1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GINS1.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene GINS1 were set to GINS1 deficiency, intrauterine growth retardation, chronic neutropenia, NK cell deficiency, Immunodeficiency 55, 617827, Neutropenia, IUGR, NK cells very low, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to GINS1. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gins1 has been classified as Green List (High Evidence).

12 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GINS1 were set to GINS1 deficiency; intrauterine growth retardation; chronic neutropenia; NK cell deficiency; Immunodeficiency 55, 617827

12 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gins1 has been classified as Green List (High Evidence).

12 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gins1 has been classified as Green List (High Evidence).

12 Jun 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GINS1 were set to GINS1 deficiency; intrauterine growth retardation; chronic neutropenia; NK cell deficiency

12 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GINS1 were set to 28414293

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GINS1 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

GINS1 was created by Louise Daugherty