Autoinflammatory Disorders
Gene: NLRC4

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants have bene associated with familial autoinflammatory conditions.
Created: 23 Mar 2022, 7:10 a.m. | Last Modified: 23 Mar 2022, 7:10 a.m.

Panel Version: 0.134

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050

Publications

Created: 23 Mar 2022, 7:10 a.m.
Last Modified: 23 Mar 2022, 7:10 a.m.
Panel version: 0.134

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Familial cold autoinflammatory syndrome 4 - MIM#616115
Autoinflammation with infantile enterocolitis - MIM#616050

OMIM

606831

Clinvar variants

Variants in NLRC4

Penetrance

None

Publications

Panels with this gene