Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: DCLRE1CEnsemblGeneIds (GRCh38): ENSG00000152457
EnsemblGeneIds (GRCh37): ENSG00000152457
OMIM: 605988, Gene2Phenotype
DCLRE1C is in 5 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Eight variants reported in SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, one in SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE, two in SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL and two in OMENN SYNDROMECreated: 5 Sep 2016, 6:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Omenn syndrome 603554
- Severe combined immunodeficiency, Athabascan type 602450
- OMIM
- 605988
- Clinvar variants
- Variants in DCLRE1C
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Upload gene information
Sarah Leigh (Genomics England Curator)DCLRE1C was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene DCLRE1C were set to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450
Created
Ellen McDonagh (Genomics England Curator)DCLRE1C was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DCLRE1C was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list