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Newborns main panel

Gene: C1QA

Amber List (moderate evidence)
C1QA (complement C1q A chain)
EnsemblGeneIds (GRCh38): ENSG00000173372
EnsemblGeneIds (GRCh37): ENSG00000173372
OMIM: 120550, Gene2Phenotype
C1QA is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29739689 - 1 casePMID: 29113537 - 2 cases with molecular confirmation and reviews 7 previous C1q deficient casesPMID: 22472776 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • C1QA associated C1q deficiency
OMIM
120550
Clinvar variants
Variants in C1QA
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to C1QA. Added phenotypes C1QA associated C1q deficiency for gene: C1QA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C1QA. Added phenotypes C1QA associated C1q deficiency for gene: C1QA Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to C1QA. Added phenotypes C1QA associated C1q deficiency for gene: C1QA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C1QA. Added phenotypes C1QA associated C1q deficiency for gene: C1QA Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: C1QA was added gene: C1QA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal