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  3. C1QA
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Complement Deficiencies

Gene: C1QA

Green List (high evidence)
C1QA (complement C1q A chain)
EnsemblGeneIds (GRCh38): ENSG00000173372
EnsemblGeneIds (GRCh37): ENSG00000173372
OMIM: 120550, Gene2Phenotype
C1QA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 22 Jul 2021, 7:15 a.m. | Last Modified: 22 Jul 2021, 7:15 a.m.
Panel Version: 0.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C1q deficiency, MIM# 613652

Publications

Created: 22 Jul 2021, 7:15 a.m.
Last Modified: 22 Jul 2021, 7:15 a.m.
Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C1q deficiency, MIM# 613652
OMIM
120550
Clinvar variants
Variants in C1QA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c1qa has been classified as Green List (High Evidence).

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652

22 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C1QA were set to

22 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C1QA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C1QA was added gene: C1QA was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: C1QA was set to Unknown