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  3. C1QA
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Intellectual disability

Gene: C1QA

Red List (low evidence)
C1QA (complement C1q A chain)
EnsemblGeneIds (GRCh38): ENSG00000173372
EnsemblGeneIds (GRCh37): ENSG00000173372
OMIM: 120550, Gene2Phenotype
C1QA 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, 5:50 p.m. | Last Modified: 25 Mar 2025, 5:51 p.m.
Panel Version: 8.208
PMID:39196411 reported 12 patients with C1q deficiency, of which 10 of them were identified with homozygous variants in C1QA gene. Global developmental delay was reported in only one of these ten cases.
Sources: Literature
Created: 25 Mar 2025, 5:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C1q deficiency 1, OMIM:613652

Publications

Created: 25 Mar 2025, 5:49 p.m.
Last Modified: 25 Mar 2025, 5:51 p.m.
Panel version: 8.207

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • C1q deficiency 1, OMIM:613652
OMIM
120550
Clinvar variants
Variants in C1QA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: C1QA 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: C1QA was added gene: C1QA was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QA were set to 39196411 Phenotypes for gene: C1QA were set to C1q deficiency 1, OMIM:613652 Review for gene: C1QA was set to RED