1. Genes and Genomic Entities
  2. C1QBP

C1QBP

complement C1q binding protein
OMIM: 601269, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green C1QBP in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33 617713
    Green C1QBP in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, 617713
    Green C1QBP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Myopathy
    • Cardiomyopathy
    • Combined oxidative phosphorylation deficiency 33, OMIM:617713
    • Ologohydramnios
    • Metabolic acidosis
    Green C1QBP in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
    Green C1QBP in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 33, MIM#617713
    Red C1QBP in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH