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Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 | RANBP2 | Achchuthan Shanmugasundram Classified gene: RANBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 | RANBP2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are >3 unrelated cases reported with monoallelic variants in this gene, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 | RANBP2 | Achchuthan Shanmugasundram Gene: ranbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 | RANBP2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RANBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 | RANBP2 | Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.579 | RANBP2 | Dmitrijs Rots reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35748970, 25522933, 29687329, 30796099, 35381605; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | RANBP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to RANBP2. Added phenotypes Defects in intrinsic and innate immunity; Fever induces acute encephalopathy for gene: RANBP2 Publications for gene RANBP2 were updated from to 32048120; 32086639 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | RANBP2 | Louise Daugherty commented on gene: RANBP2: Encephalopathy acute, infection induced susceptibility to, 3: 10 families, variable susceptibility to encephalopathy with infections - discuss penetrance and although there is an absence of primary immune dysfunction, whether this is a phenocopy like presentation? - Would a result be clinically useful? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | RANBP2 |
Louise Daugherty commented on gene: RANBP2: 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 only enough evidence to rate this gene Red 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 only enough evidence to rate this gene Red |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | RANBP2 | Louise Daugherty commented on gene: RANBP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 | RANBP2 | Louise Daugherty Source IUIS Classification February 2018 was added to RANBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.86 | RANBP2 | Louise Daugherty Phenotypes for gene: RANBP2 were changed from to Fever induces acute encephalopathy; Defects in Intrinsic and Innate Immunity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.85 | RANBP2 | Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 | RANBP2 | Louise Daugherty Source London North GLH was added to RANBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 | RANBP2 | Louise Daugherty Source NHS GMS was added to RANBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 | RANBP2 |
Louise Daugherty gene: RANBP2 was added gene: RANBP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: RANBP2 was set to |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | PSMA3 | Louise Daugherty RANBP2 was changed to PSMA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | RANBP2 | Louise Daugherty Source North West GLH was added to RANBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 | RANBP2 | Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 | RANBP2 | Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | RANBP2 | Louise Daugherty commented on gene: RANBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | RANBP2 | Louise Daugherty reviewed gene: RANBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | RANBP2 | Louise Daugherty Added gene to panel |