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BabyScreen+ newborn screening

Gene: C8A

Red List (low evidence)

C8A (complement C8 alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000157131
EnsemblGeneIds (GRCh37): ENSG00000157131
OMIM: 120950, Gene2Phenotype
C8A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Borderline Amber/Green on diagnostic panels.

6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense) Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.

No additional P/LP variants in ClinVar.

Not suitable for screening applications at present.
Created: 13 Oct 2022, 5:57 a.m. | Last Modified: 13 Oct 2022, 5:57 a.m.
Panel Version: 0.544

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type I MIM#613790

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BeginNGS
Phenotypes
  • C8 deficiency, type I, MIM# 613790
OMIM
120950
Clinvar variants
Variants in C8A
Penetrance
None
Panels with this gene

History Filter Activity

13 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c8a has been classified as Red List (Low Evidence).

13 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c8a has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C8A was added gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790