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  3. C1QBP
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Mitochondrial disease

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM# 617713

Publications

Created: 12 Apr 2020, 6:43 a.m.
Last Modified: 12 Apr 2020, 6:43 a.m.
Panel version: 0.326

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
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

12 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713

12 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C1QBP were set to

12 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C1QBP was added gene: C1QBP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: C1QBP was set to Unknown