PanelApp
  1. Genes and Genomic Entities
  2. C1R

C1R

complement C1r
OMIM: 613785, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green C1R in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.1

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 2.362

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080
  • Inborn error of immunity, MONDO:0003778

Green C1R in Complement Deficiencies


Level 2: Immunological disorders
Version 2.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ehlers-Danlos syndrome, periodontal type 1, MONDO:0020684
    • Inborn error of immunity, MONDO:0003778

    Green C1R in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.4

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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