Gastrointestinal epithelial barrier disorders
Gene: NLRC4EnsemblGeneIds (GRCh38): ENSG00000091106
EnsemblGeneIds (GRCh37): ENSG00000091106
OMIM: 606831, Gene2Phenotype
NLRC4 is in 5 panels
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Autoinflammation with infantile enterocolitis, OMIM:616050
- OMIM
- 606831
- Clinvar variants
- Variants in NLRC4
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NLRC4 were changed from Autoinflammation with infantile enterocolitis, 616050 to Autoinflammation with infantile enterocolitis, OMIM:616050
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Added New Source
Olivia Niblock (Genomics England Curator)NLRC4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)NLRC4 was created by Olivia Niblock