PanelApp
  1. Genes and Genomic Entities
  2. C1QBP

C1QBP

complement C1q binding protein
OMIM: 601269, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red C1QBP in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 1.10

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM#617713

    Green C1QBP in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM# 617713

    Green C1QBP in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM# 617713

    Green C1QBP in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Progressive external opthalmoplegia
    • mitochondrial myopathy

    Green C1QBP in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM#617713

    Green C1QBP in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM# 617713

    Green C1QBP in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM# 617713
    • severe neonatal cardiomyopathy

    Green C1QBP in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM#617713