Rhabdomyolysis and Metabolic Myopathy
Gene: C1QBP

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

28942965

Created: 8 Dec 2021, 7:30 a.m.
Last Modified: 8 Dec 2021, 7:30 a.m.
Panel version: Imported from Mendeliome panel version 0.10169

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

Created: 26 Oct 2020, 8:41 a.m.

Panel version: Imported from Myopathy - adult onset panel version 0.93

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