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Inborn errors of metabolism

Gene: C1QBP

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Sources: Literature, Expert Review
Created: 19 Dec 2018, 11:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 33 617713

Publications

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

Details

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

History Filter Activity

8 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

19 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: C1QBP was added gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review 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 617713 Review for gene: C1QBP was set to GREEN