DCLRE1C

DNA cross-link repair 1C
OMIM: 605988, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DCLRE1C in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.39

review 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

Green DCLRE1C in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.73

review 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

Green DCLRE1C in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
  • Combined B and T cell defect v1.12
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, 602450
  • Severe combined immunodeficiency, Athabascan type
  • DCLRE1C (Artemis) deficiency
  • Combined immunodeficiency
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Nl NK, radiation sensitive
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID

Amber DCLRE1C in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Omenn syndrome

Green DCLRE1C in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
  • Combined B and T cell defect v1.12
Phenotypes
  • Severe combined immunodeficiency, Athabascan type
  • Severe combined immunodeficiency, Athabascan type, 602450
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
  • DCLRE1C (Artemis) deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK, radiation sensitive
  • Immunodeficiencies affecting cellular and humoral immunity

Green DCLRE1C in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Omenn syndrome, 603554
  • Severe combined immunodeficiency, Athabascan type, 602450