Possible mitochondrial disorder - nuclear genes
Gene: C1QBP

C1QBP (complement C1q binding protein)
EnsemblGeneIds (GRCh38): ENSG00000108561
EnsemblGeneIds (GRCh37): ENSG00000108561
OMIM: 601269, Gene2Phenotype
C1QBP is in 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33, 617713

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Created: 18 Dec 2018, 12:35 p.m.

Created: 18 Dec 2018, 12:35 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.78

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals described with bi-allelic variants in this gene, and combined oxidative phosphorylation deficiency.
Created: 27 Aug 2018, 9:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM#617713

Publications

28942965

Created: 27 Aug 2018, 9:56 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.66

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert Review Green

Phenotypes

Combined oxidative phosphorylation deficiency 33, 617713

OMIM

601269

Clinvar variants

Variants in C1QBP

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: C1QBP was added gene: C1QBP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, 617713

Possible mitochondrial disorder - nuclear genes Gene: C1QBP