Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RANBP2
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.Created: 4 Jan 2024, 10:09 a.m. | Last Modified: 4 Jan 2024, 10:09 a.m.
Panel Version: 4.134
In addition to the evidence provided by Dmitrijs Rots in his review, this gene has also been associated with relevant phenotypes in both OMIM (MIM #608033) and Gene2Phenotype (with 'limited' rating in the DD panel).Created: 4 Jan 2024, 10:07 a.m. | Last Modified: 4 Jan 2024, 10:07 a.m.
Panel Version: 4.133
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033
Included in IUIS 2022 inborn error of immunity disease list + multiple cases reported in the literature.Created: 16 Oct 2022, 5:47 a.m. | Last Modified: 16 Oct 2022, 5:47 a.m.
Panel Version: 2.579
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
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?Created: 26 Sep 2019, 3:59 p.m. | Last Modified: 26 Sep 2019, 3:59 p.m.
Panel Version: 1.130
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 RedCreated: 26 Sep 2019, 3:35 p.m. | Last Modified: 26 Sep 2019, 3:35 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019Created: 26 Sep 2019, 3:34 p.m. | Last Modified: 26 Sep 2019, 3:34 p.m.
Panel Version: 1.127
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RANBP2 .PanelApp HGNC gene symbol check: RANBP2 . IUIS Disease: Acute necrotizing encephalopathy . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Ubiquitous expression. IUIS Associated features: Fever induces acute encephalopathy. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic TissuesCreated: 6 Jul 2018, 12:34 p.m.
Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: RANBP2.
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
Source IUIS Classification February 2018 was added to RANBP2.
Phenotypes for gene: RANBP2 were changed from to Fever induces acute encephalopathy; Defects in Intrinsic and Innate Immunity
Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source London North GLH was added to RANBP2.
Source NHS GMS was added to RANBP2.
gene: RANBP2 was added gene: RANBP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: RANBP2 was set to