Periodic fever syndromes

Gene: NLRC4

Red List (low evidence)

NLRC4 (NLR family CARD domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 5 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Familial cold autoinflammatory syndrome only reported in one family. Autoinflammation with infantile enterocolitis not relevant phenotype due to the enterocolitis
Created: 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
  • ?Familial cold autoinflammatory syndrome 4 616115
  • Autoinflammation with infantile enterocolitis 616050
OMIM
606831
Clinvar variants
Variants in NLRC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

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.

22 Feb 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NLRC4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Feb 2017, Gel status: 0

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for NLRC4 were set to ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050

1 Feb 2017, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for NLRC4 were set to 25385754

17 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NLRC4 was created by rfoulger

17 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NLRC4 was added to Periodic fever syndromespanel. Sources: Other