Periodic fever syndromes
Gene: NLRC4EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 5 panels
1 review
Alice Gardham (Genomics England)
Familial cold autoinflammatory syndrome only reported in one family. Autoinflammation with infantile enterocolitis not relevant phenotype due to the enterocolitisCreated: 1 Feb 2017, 3:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
- OMIM
- 606831
- Clinvar variants
- Variants in NLRC4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NLRC4 were changed from ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050 to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for NLRC4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for NLRC4 were set to ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050
Set publications
Alice Gardham (Genomics England)Publications for NLRC4 were set to 25385754
Created
Rebecca Foulger (Genomics England curator)NLRC4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)NLRC4 was added to Periodic fever syndromespanel. Sources: Other