COVID-19 research
Gene: GINS1
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
5 patients in 4 kindredsCreated: 11 Jun 2018, 1:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intrauterine growth retardation; chronic neutropenia; NK cell deficiency
Publications
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 1Created: 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 reviewCreated: 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 deficiencyCreated: 17 Apr 2018, 12:29 p.m.
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