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Newborns main panel

Gene: C8A

Green List (high evidence)
C8A (complement C8 alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000157131
EnsemblGeneIds (GRCh37): ENSG00000157131
OMIM: 120950, Gene2Phenotype
C8A is in 2 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: 32769119 - 4 patient all homozygous for same variant. Intro discusses 14 patients from literature
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 Green
Phenotypes
  • C8 deficiency, type I
OMIM
120950
Clinvar variants
Variants in C8A
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes C8 deficiency, type I for gene: C8A

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 C8A. Added phenotypes C8 deficiency, type I for gene: C8A 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 C8A. Added phenotypes C8 deficiency, type I for gene: C8A Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes C8 deficiency, type I for gene: C8A

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C8A. Added phenotypes C8 deficiency, type I for gene: C8A 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: C8A was added gene: C8A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal