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Primary immunodeficiency

Gene: NBAS

Red List (low evidence)

NBAS (neuroblastoma amplified sequence)
EnsemblGeneIds (GRCh38): ENSG00000151779
EnsemblGeneIds (GRCh37): ENSG00000151779
OMIM: 608025, Gene2Phenotype
NBAS is in 12 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.

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

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
  • Infantile liver failure syndrome 2, 616483
  • Fever induces liver failure
  • Fever induced liver failure
  • Defects in intrinsic and innate immunity
OMIM
608025
Clinvar variants
Variants in NBAS
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 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

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

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NBAS were set to Fever induced liver failure; Infantile liver failure syndrome 2, 616483; Defects in Intrinsic and Innate Immunity

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NBAS were set to Fever induces liver failure, 616483; Defects in Intrinsic and Innate Immunity

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene NBAS were set to Fever induces liver failure, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NBAS was created by Louise Daugherty