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Hearing loss

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 4 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#611876:Brugada syndrome 4[<omim version=1.0><clinicalSynopsisList>]

Publications

Details

Sources
  • Expert
OMIM
600003
Clinvar variants
Variants in CACNB2
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert