Brain Calcification
Gene: C1QBEnsemblGeneIds (GRCh38): ENSG00000173369
EnsemblGeneIds (GRCh37): ENSG00000173369
OMIM: 120570, Gene2Phenotype
C1QB is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
C1q deficiency, MIM# 613652
Yetong Chen (University of Melbourne)
Limited evidence supports a casual role of the C1QB gene in brain calcification.
PMID 23651859 reports a patient with a novel homozygous variant in C1QB who developed bilateral frontal infarcts and basal ganglia calcification.
Sources: Expert listCreated: 28 Mar 2023, 12:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C1q deficiency; C1QD
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- C1q deficiency, MIM# 613652
- OMIM
- 120570
- Clinvar variants
- Variants in C1QB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C1QB were changed from C1q deficiency; C1QD to C1q deficiency, MIM# 613652
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c1qb has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: C1QB was added gene: C1QB was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QB were set to 23651859 Phenotypes for gene: C1QB were set to C1q deficiency; C1QD Review for gene: C1QB was set to RED