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  3. NLRC4
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Inflammatory bowel disease

Gene: NLRC4

Amber List (moderate evidence)
NLRC4 (NLR family CARD domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported in PMID: 25217960. Three affected individuals, variable age of onset and severity.
Created: 22 Mar 2023, 3:01 a.m. | Last Modified: 22 Mar 2023, 3:01 a.m.
Panel Version: 0.90

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammation with infantile enterocolitis 616050

Publications

Created: 22 Mar 2023, 3:01 a.m.
Last Modified: 22 Mar 2023, 3:01 a.m.
Panel version: 0.91

Peter McNaughton (Queensland Children's Hospital)

I don't know

Infant presenting at 1 week of life with secretory diarrhea and fever with p.Val341Ala variant. Cellular model demonstrating gain of function
Sources: Literature
Created: 9 Dec 2022, 12:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Infantile onset enterocolitis and autoinflammation

Publications

Mode of pathogenicity
Other

Created: 9 Dec 2022, 12:18 a.m.

Panel version: 0.84

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammation with infantile enterocolitis, MIM# 616050
OMIM
606831
Clinvar variants
Variants in NLRC4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

22 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrc4 has been classified as Amber List (Moderate Evidence).

22 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLRC4 were changed from Infantile onset enterocolitis and autoinflammation to Autoinflammation with infantile enterocolitis, MIM# 616050

22 Mar 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NLRC4 were set to PMID: 25217960

22 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrc4 has been classified as Amber List (Moderate Evidence).

9 Dec 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: NLRC4 was added gene: NLRC4 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRC4 were set to PMID: 25217960 Phenotypes for gene: NLRC4 were set to Infantile onset enterocolitis and autoinflammation Mode of pathogenicity for gene: NLRC4 was set to Other Review for gene: NLRC4 was set to AMBER