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Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 | IFNGR2 | Arina Puzriakova Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743; 30264912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.124 | IFNGR2 | Arina Puzriakova Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria and Salmonella; Defects in Intrinsic and Innate Immunity to Immunodeficiency 28, mycobacteriosis, OMIM:614889 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 | IFNG | Ivone Leong Classified gene: IFNG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 | IFNG | Ivone Leong Added comment: Comment on list classification: This gene has been given Red status based on expert review. PMID: 32163377 does have some functional data; however, it is cellular-based work. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 | IFNG | Ivone Leong Gene: ifng has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 | IFNG |
Zornitza Stark gene: IFNG was added gene: IFNG was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNG were set to 32163377 Phenotypes for gene: IFNG were set to Mendelian susceptibility to mycobacterial disease Review for gene: IFNG was set to RED Added comment: Two cousins with MSMD and homozygous intragenic deletion, some functional data. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR2 | Louise Daugherty commented on gene: IFNGR2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR1 | Louise Daugherty commented on gene: IFNGR1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR2 | Louise Daugherty commented on gene: IFNGR2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR1 | Louise Daugherty commented on gene: IFNGR1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR2 | Kimberly Gilmour reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR1 | Kimberly Gilmour reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR2 | Tracy Briggs reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFNGR1 | Tracy Briggs reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | IFNGR2 | Louise Daugherty Source NHS GMS was added to IFNGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | IFNGR1 | Louise Daugherty Source NHS GMS was added to IFNGR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | IFNGR2 | Louise Daugherty Source North West GLH was added to IFNGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | IFNGR1 | Louise Daugherty Source North West GLH was added to IFNGR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | IFNGR2 | Louise Daugherty Source London North GLH was added to IFNGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | IFNGR1 | Louise Daugherty Source London North GLH was added to IFNGR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 | IFNGR2 | Louise Daugherty Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 | IFNGR2 | Louise Daugherty Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty edited their review of gene: IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty edited their review of gene: IFNGR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty marked gene: IFNGR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty classified IFNGR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty marked gene: IFNGR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty classified IFNGR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Sophie Hambleton reviewed gene: IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Sophie Hambleton reviewed gene: IFNGR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty commented on IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty commented on IFNGR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty commented on IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty commented on IFNGR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty commented on IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty commented on IFNGR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR2 | Louise Daugherty reviewed IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | IFNGR1 | Louise Daugherty reviewed IFNGR1 |