Intellectual disability
Gene: C1QC

C1QC (complement C1q C chain)
EnsemblGeneIds (GRCh38): ENSG00000159189
EnsemblGeneIds (GRCh37): ENSG00000159189
OMIM: 120575, Gene2Phenotype
C1QC is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID:39196411 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 5:55 p.m. | Last Modified: 25 Mar 2025, 5:55 p.m.

Panel Version: 8.210

PMID:39196411 reported 12 patients with C1q deficiency, of which one was identified with homozygous variant in C1QC gene (p.(Arg69Ter)). Intellectual impairment was reported in this patient.
Sources: Literature
Created: 25 Mar 2025, 5:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C1q deficiency 3, OMIM:620322

Publications

39196411

Created: 25 Mar 2025, 5:54 p.m.

Panel version: 8.209

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

C1q deficiency 3, OMIM:620322

OMIM

120575

Clinvar variants

Variants in C1QC

Penetrance

None

Publications

39196411

Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: C1QC were set to 39196411

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: C1QC was added gene: C1QC was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QC were set to 39196411 Phenotypes for gene: C1QC were set to C1q deficiency 3, OMIM:620322 Review for gene: C1QC was set to RED

Intellectual disability Gene: C1QC