Rhabdomyolysis and Metabolic Myopathy

Gene: C1QBP

Green List (high evidence)

C1QBP (complement C1q binding protein)
EnsemblGeneIds (GRCh38): ENSG00000108561
EnsemblGeneIds (GRCh37): ENSG00000108561
OMIM: 601269, Gene2Phenotype
C1QBP is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Highly variable phenotype, at least 4 unrelated families reported.
Created: 8 Dec 2021, 7:30 a.m. | Last Modified: 8 Dec 2021, 7:30 a.m.
Panel Version: 0.10169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM# 617713

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Exercise intolerance is a presenting feature
Created: 12 Apr 2023, 3:45 a.m. | Last Modified: 12 Apr 2023, 3:45 a.m.
Panel Version: 0.97
Four unrelated cases with progressive external opthalmoplegia and myopathy, and homozygous variants. Muscle biopsies and expression assays supportive of a mitochondrial myopathy. Three of the cases are adult-onset.
Sources: Literature
Created: 26 Oct 2020, 8:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive external opthalmoplegia; mitochondrial myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external opthalmoplegia
  • mitochondrial myopathy
OMIM
601269
Clinvar variants
Variants in C1QBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c1qbp has been classified as Green List (High Evidence).

12 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: C1QBP were changed from to Progressive external opthalmoplegia; mitochondrial myopathy

12 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: C1QBP were set to

12 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c1qbp has been classified as Green List (High Evidence).

6 Apr 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: C1QBP was added gene: C1QBP was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal