Primary immunodeficiencyGene: NBAS
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NBAS .PanelApp HGNC gene symbol check: NBAS . IUIS Disease: Acute liver failure due to NBAS deficiency . IUIS Inheritance: AR .T cells: Decreased, .B cells: N/A, .IUIS Other affected cells: Somatic and hematopoietic. IUIS Associated features: Fever induces liver failure. 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, 12:29 p.m.
hepatopathy may be precipitated by fever
Created: 29 Jun 2018, 9:49 p.m.
infantile liver failure
Source IUIS Classification December 2019 was added to NBAS. Added phenotypes Defects in intrinsic and innate immunity; Fever induces liver failure for gene: NBAS Publications for gene NBAS were updated from to 32048120; 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: nbas has been classified as Red List (Low Evidence).
Phenotypes for gene: NBAS were set to Fever induced liver failure; Infantile liver failure syndrome 2, 616483; Defects in Intrinsic and Innate Immunity
Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Fever induces liver failure, 616483; Defects in Intrinsic and Innate Immunity
Phenotypes for gene NBAS were set to Fever induces liver failure, Defects in Intrinsic and Innate Immunity
NBAS was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
NBAS was created by Louise Daugherty