DCLRE1C

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green DCLRE1C in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	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 1.75	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 1.141	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 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Omenn syndrome
Green DCLRE1C in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	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 1.184	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