Autoinflammatory disorders
Gene: NLRC4EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 5 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
- OMIM
- 606831
- Clinvar variants
- Variants in NLRC4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to NLRC4.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: NLRC4 was added gene: NLRC4 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRC4 were set to 27876626; 25217959; 25385754; 25217960 Phenotypes for gene: NLRC4 were set to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115