Periodic fever syndromes
Gene: NLRC4
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
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
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.
Mode of inheritance for NLRC4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Phenotypes for NLRC4 were set to ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050
Publications for NLRC4 were set to 25385754
NLRC4 was created by rfoulger
NLRC4 was added to Periodic fever syndromespanel. Sources: Other