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STRs in panel
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COVID-19 research

Gene: NLRC4

Green List (high evidence)

NLRC4 (NLR family CARD domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 5 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases (2 in 3 cases of Autoinflammation with infantile enterocolitis 616050 and 1 in a case of ?Familial cold autoinflammatory syndrome 4 616115). All were reported as gain of function variants, with functional studies to support this view.
Created: 2 May 2018, 3:37 p.m.
Comment on mode of pathogenicity: Autoinflammation with infantile enterocolitis 616050 and Familial cold autoinflammatory syndrome 4 616115 are associated by gain of function variants in NLRC4, which result in activation of CASP1.
Created: 2 May 2018, 3:28 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NLRC4 .PanelApp HGNC gene symbol check: NLRC4 . IUIS Disease: NLRC4-MAS (macrophage activating syndrome) or familial cold autoinflammatory syndrome 4 . IUIS Inheritance: AD GOF .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: PMNs monocytes macrophages. IUIS Associated features: Severe enterocolitis and macrophage activation syndrome. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome
Created: 2 Jul 2018, 10:35 a.m.
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(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NLRC4, GRID_Gene_Symbol: NLRC4, GRID_Transcript_ENS_Community submitted: ENST00000404025, GRID_Transcript_RefSeq: NM_021209.4, GRID_Transcript_ENS_used_on_Production: ENST00000404025
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Autoinflammatory Disorders
  • Severe enterocolitis and macrophage activation syndrome
  • Autoinflammation with infantile enterocolitis 616050
  • ?Familial cold autoinflammatory syndrome 4 616115
OMIM
606831
Clinvar variants
Variants in NLRC4
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: NLRC4 was added gene: NLRC4 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRC4 were set to 25217960; 25217959; 25385754; 27876626 Phenotypes for gene: NLRC4 were set to Autoinflammatory Disorders; Severe enterocolitis and macrophage activation syndrome; Autoinflammation with infantile enterocolitis 616050; ?Familial cold autoinflammatory syndrome 4 616115 Mode of pathogenicity for gene: NLRC4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments