Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: GINS1

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

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

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

• 28414293

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.