PanelApp (test)
  1. Genes and Genomic Entities
  2. C1R:Ensemblv90

C1R:Ensemblv90

complement C1r
OMIM: 613785, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green C1R in Vasculitis


Level 2: Immunological disorders
Version 0.95

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

Green C1R in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

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 1.3802

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 0.153

    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

    Green C1R in Ehlers Danlos syndromes


    Level 2: Cardiovascular disorders
    Version 1.4

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • International EDS Consortium
    • Expert Review Green
    Phenotypes
    • Periodontal EDS
    • Ehlers-Danlos syndrome periodontal type 1, 130080

    Green C1R in Vasculitis


    Level 2: Immunological disorders
    Version 1.0

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

    Green C1R in Aortopathy_Connective Tissue Disorders


    Level 2: Cardiovascular disorders
    Version 2.0

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

    Green C1R in Complement Deficiencies


    Level 2: Immunological disorders
    Version 2.0

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

    Green C1R in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green C1R in Ehlers Danlos syndromes


    Level 2: Cardiovascular disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • International EDS Consortium
    • Expert Review Green
    Phenotypes
    • Periodontal EDS
    • Ehlers-Danlos syndrome periodontal type 1, 130080