COVID-19 research
Gene: NBASOriginaI 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 TissuesCreated: 6 Jul 2018, 12:29 p.m.
hepatopathy may be precipitated by feverCreated: 29 Jun 2018, 9:49 p.m.
Phenotypes
infantile liver failure
Source Expert Review Green was added to NBAS. Added phenotypes Infantile liver failure syndrome 2, 616483; Defects in intrinsic and innate immunity; Fever induced liver failure; Defects in Intrinsic and Innate Immunity; Fever induces liver failure for gene: NBAS Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NBAS was added gene: NBAS was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 32086639; 32048120 Phenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, 616483; Defects in intrinsic and innate immunity; Fever induced liver failure; Defects in Intrinsic and Innate Immunity; Fever induces liver failure