Primary immunodeficiencyGene: IFNAR2
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.
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
susceptibility to severe viral disease
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
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.
Gene: ifnar2 has been classified as Red List (Low Evidence).
Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity
Publications for gene: IFNAR2 were set to 26424569
Mode of inheritance for gene: IFNAR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene IFNAR2 were set to Severe viral infections (disseminated vaccine-strain measles, HHV6), Defects in Intrinsic and Innate Immunity
IFNAR2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
IFNAR2 was created by Louise Daugherty