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Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 SLC9A3 Arina Puzriakova reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 SLC9A3 Arina Puzriakova Added phenotypes Diarrhea 8, secretory sodium, congenital, OMIM:616868 for gene: SLC9A3
Publications for gene: SLC9A3 were updated from 26358773; 33346580 to 26358773; 31276831; 30633106; 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 SLC9A3 Ivone Leong Classified gene: SLC9A3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 SLC9A3 Ivone Leong Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.399 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea to Very Early Onset Inflammatory Bowel Disease; Diarrhea 8, secretory sodium, congenital, OMIM:616868
Primary immunodeficiency or monogenic inflammatory bowel disease v2.396 SLC9A3 Ivone Leong Publications for gene: SLC9A3 were set to PMID: 26358773
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 SLC9A3 Kelsey Jones gene: SLC9A3 was added
gene: SLC9A3 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A3 were set to PMID: 26358773
Phenotypes for gene: SLC9A3 were set to Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea
Penetrance for gene: SLC9A3 were set to Incomplete
Review for gene: SLC9A3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel). 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Louise Daugherty commented on gene: UNC93B1: 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 C9 Louise Daugherty commented on gene: C9: 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 UNC93B1 Louise Daugherty commented on gene: UNC93B1: 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 C9 Louise Daugherty commented on gene: C9: 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 UNC93B1 Kimberly Gilmour reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Kimberly Gilmour reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Tracy Briggs reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Tracy Briggs reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNC93B1 Louise Daugherty Source NHS GMS was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C9 Louise Daugherty Source NHS GMS was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNC93B1 Louise Daugherty Source North West GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C9 Louise Daugherty Source North West GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNC93B1 Louise Daugherty Source London North GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C9 Louise Daugherty Source London North GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty marked gene: UNC93B1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty edited their review of gene: UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty commented on gene: C9
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Sophie Hambleton reviewed gene: UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Eleanor Williams classified UNC93B1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Eleanor Williams commented on gene: UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty marked gene: C9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty classified C9 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty edited their review of gene: C9
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Sophie Hambleton reviewed gene: C9
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty commented on C9
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty classified UNC93B1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty commented on UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty commented on UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty commented on C9
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty commented on UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty commented on C9
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty reviewed UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty reviewed C9
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty Added gene to panel