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  3. C1QBP
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Cardiomyopathy_Paediatric

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

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

associated with cardiomyopathy as part of a variable multi system disorder. Biallelic pathogenic variants reported in 2 unrelated infants who died within first few weeks of life and in 2 adults, with cardiomyopathy ad a neuromuscular phenotype.
Created: 19 Jun 2020, 11:49 a.m. | Last Modified: 19 Jun 2020, 11:49 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; hypertrophic cardiomyopathy

Publications

Created: 19 Jun 2020, 11:49 a.m.
Last Modified: 19 Jun 2020, 11:49 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported; hypertrophic cardiomyopathy is a feature of the condition.
Sources: Expert list
Created: 13 Dec 2019, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM#617713

Publications

Created: 13 Dec 2019, 4:54 a.m.

Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM#617713
OMIM
601269
Clinvar variants
Variants in C1QBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: C1QBP was added gene: C1QBP was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713