PanelApp
  1. Genes and Genomic Entities
  2. DCLRE1C

DCLRE1C

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red DCLRE1C in Vasculitis


Level 2: Immunological disorders
Version 0.93

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Red DCLRE1C in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 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 0.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225

    Green DCLRE1C in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225

    Green DCLRE1C in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225

    Green DCLRE1C in Severe Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.27

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225

    Green DCLRE1C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews 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

    		0 reviews 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, Athabascan type, MIM# 602450
    • Omenn syndrome, MIM# 603554

    Green DCLRE1C in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, Athabascan type, MIM# 602450
    • Omenn syndrome, MIM# 603554