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Incidentalome

Gene: CACNB2

Red List (low evidence)
CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165995
EnsemblGeneIds (GRCh37): ENSG00000165995
OMIM: 600003, Gene2Phenotype
CACNB2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

DISPUTED by ClinGen.
Created: 12 Aug 2022, 3:55 a.m. | Last Modified: 12 Aug 2022, 3:55 a.m.
Panel Version: 0.182

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brugada syndrome 4, MIM# 611876

Publications

Created: 12 Aug 2022, 3:55 a.m.
Last Modified: 12 Aug 2022, 3:55 a.m.
Panel version: 0.182

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brugada syndrome 4, MIM# 611876
Tags
cardiac
OMIM
600003
Clinvar variants
Variants in CACNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: CACNB2.

12 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacnb2 has been classified as Red List (Low Evidence).

12 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNB2 were changed from to Brugada syndrome 4, MIM# 611876

12 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNB2 were set to

12 Aug 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacnb2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNB2 was added gene: CACNB2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNB2 was set to Unknown