Gastrointestinal epithelial barrier disorders
Gene: DCLRE1C

DCLRE1C (DNA cross-link repair 1C)
EnsemblGeneIds (GRCh38): ENSG00000152457
EnsemblGeneIds (GRCh37): ENSG00000152457
OMIM: 605988, Gene2Phenotype
DCLRE1C is in 5 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review and previous curation have highlighted that variants in this gene appear to be linked with the presentation of gastrointestinal phenotypes, specifically those presented in Ommen syndrome. Therefore, this gene will be promoted to green.
Created: 26 Jul 2018, 11:46 a.m.

Created: 26 Jul 2018, 11:46 a.m.

Panel version: 1.44

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

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 SYNDROME
Created: 5 Sep 2016, 6:49 a.m.

Created: 2 Sep 2016, 3:11 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.46

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Early Onset Inflammatory Bowel Disease
Omenn syndrome 603554
Severe combined immunodeficiency, Athabascan type 602450

OMIM

605988

Clinvar variants

Variants in DCLRE1C

Penetrance

None

Panels with this gene