DCLRE1C

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DCLRE1C in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red DCLRE1C in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Omenn syndrome 603554 Severe combined immunodeficiency, Athabascan type 602450
Green DCLRE1C in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DCLRE1C in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome, MIM# 603554
Green DCLRE1C in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome MIM# 603554
Green DCLRE1C in Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.7 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Absent/reduced T and B cells decreased Ig levels Normal NK cell number increased risk of graft rejection possibly due to activated NK cells radiation sensitivity failure to thrive recurrent respiratory infections diarrhoea fever hypogammmaglobulinaemia
Green DCLRE1C in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3)
Green DCLRE1C in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency, Athabascan type
Green DCLRE1C in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3)
Green DCLRE1C in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome, MIM# 603554 Tags treatable immunological
Green DCLRE1C in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3)