Congenital ophthalmoplegia
Gene: C1QBPEnsemblGeneIds (GRCh38): ENSG00000108561
EnsemblGeneIds (GRCh37): ENSG00000108561
OMIM: 601269, Gene2Phenotype
C1QBP is in 8 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
Highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. PEO onset has been reported in childhood.
Sources: LiteratureCreated: 20 Dec 2020, 10:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM# 617713
Publications
- PMID: 28942965
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 33, MIM# 617713
- OMIM
- 601269
- Clinvar variants
- Variants in C1QBP
- Penetrance
- None
- Publications
-
- PMID: 28942965
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c1qbp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c1qbp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: C1QBP was added gene: C1QBP was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to PMID: 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM# 617713 Review for gene: C1QBP was set to GREEN