PanelApp (stage)
  1. Genes and Genomic Entities
  2. DCLRE1B

DCLRE1B

DNA cross-link repair 1B
OMIM: 609683, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DCLRE1B in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 8, MIM# 620133

Green DCLRE1B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 8, MIM# 620133

Red DCLRE1B in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome