1. Panels
  2. COVID-19 research
  3. NBAS
Genes in panel
Prev Next
STRs in panel
Prev Next

COVID-19 research

Gene: NBAS

Green List (high evidence)
NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.
Created: 6 Jul 2018, 12:29 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Sophie Hambleton (Newcastle University)

Red List (low evidence)

hepatopathy may be precipitated by fever
Created: 29 Jun 2018, 9:49 p.m.

Phenotypes
infantile liver failure

Created: 29 Jun 2018, 9:49 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1371

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
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
OMIM
608025
Clinvar variants
Variants in NBAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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