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STRs in panel
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Primary immunodeficiency

Gene: NFKBID

Red List (low evidence)

NFKBID (NFKB inhibitor delta)
EnsemblGeneIds (GRCh38): ENSG00000167604
EnsemblGeneIds (GRCh37): ENSG00000167604
NFKBID is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. The only variants are structural rearrangements that include NFKBID amongst other genes. PMID 26973645 reports "heterozygous mutation in the nfkbid gene encoding the atypical IκB protein IκBNS led to reduced steady state IgM and IgG3 antibody levels and impaired response to vaccination with TI-2 antigens in mice". Thus, variants in human NFKBID may also result in reduced levels of IgM and IgG3 and compromized vaccination responses.
Created: 14 Apr 2020, 1:07 p.m. | Last Modified: 14 Apr 2020, 1:07 p.m.
Panel Version: 2.53

Sophie Hambleton (Newcastle University)

Red List (low evidence)

not linked to immunodeficiency to my knowledge
Created: 29 Jun 2018, 2:54 p.m.

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Red, no published cases of immunodeficiency to date. Red review from external expert review. Referred back to Victorian Clinical Genetics Services for evidences.
Created: 4 Jul 2018, 4:04 p.m.
Comment on list classification: This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.
Created: 26 Jun 2018, 12:45 p.m.

Details

Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Clinvar variants
Variants in NFKBID
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NFKBID were set to

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.

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nfkbid has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NFKBID was added to Primary immunodeficiency disorders panel. Sources: Victorian Clinical Genetics Services

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NFKBID was created by Louise Daugherty