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Primary immunodeficiency

Gene: RANBP2

Red List (low evidence)

RANBP2 (RAN binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

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 Red
Created: 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 2019
Created: 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 Tissues
Created: 6 Jul 2018, 12:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
  • Fever induces acute encephalopathy
OMIM
601181
Clinvar variants
Variants in RANBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source IUIS Classification February 2018 was added to RANBP2.

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RANBP2 were changed from to Fever induces acute encephalopathy; Defects in Intrinsic and Innate Immunity

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to RANBP2.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RANBP2.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RANBP2 was added gene: RANBP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: RANBP2 was set to