PanelApp
  1. Genes and Genomic Entities
  2. C1R

C1R

complement C1r
OMIM: 613785, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green C1R in Vasculitis


Level 2: Immunological disorders
Version 0.93

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green C1R in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)

Green C1R in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080 Current Edit

Green C1R in Complement Deficiencies


Level 2: Immunological disorders
Version 1.2

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green C1R in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)
    • Leukodystrophy - adult onset