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Primary immunodeficiency

Gene: IFNAR2

Red List (low evidence)

IFNAR2 (interferon alpha and beta receptor subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000159110
EnsemblGeneIds (GRCh37): ENSG00000159110
OMIM: 602376, Gene2Phenotype
IFNAR2 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: Added MOI suggested by external review
Created: 6 Jul 2018, 12:46 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFNAR2 .PanelApp HGNC gene symbol check: IFNAR2 . IUIS Disease: IFNAR2 deficiency . IUIS Inheritance: AR .T cells: Nl number, low cytokine production, poor antigen proliferation, .B cells: N/A, .IUIS Other affected cells: Broadly expressed. IUIS Associated features: Severe viral infections (disseminated vaccine-strain measles, HHV6). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection
Created: 6 Jul 2018, 12:28 p.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

1 kindred, proband and sibling shared homozygous variant but severe viral disease did not occur in the latter (possibly because of active management)
Created: 29 Jun 2018, 9:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
susceptibility to severe viral disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Severe viral infections (disseminated vaccine-strain measles, HHV6)
  • ?Immunodeficiency 45, 616669
OMIM
602376
Clinvar variants
Variants in IFNAR2
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 IFNAR2. Added phenotypes Severe viral infections (disseminated vaccine-strain measles, HHV6) for gene: IFNAR2 Publications for gene IFNAR2 were updated from 26424569 to 32048120; 26424569; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ifnar2 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IFNAR2 were set to 26424569

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IFNAR2 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IFNAR2 were set to Severe viral infections (disseminated vaccine-strain measles, HHV6), Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IFNAR2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IFNAR2 was created by Louise Daugherty