Genes in panel
STRs in panel
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Monogenic hearing loss

Gene: BSN

Red List (low evidence)

BSN (bassoon presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000164061
EnsemblGeneIds (GRCh37): ENSG00000164061
OMIM: 604020, Gene2Phenotype
BSN is in 2 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

BSN is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:05 a.m.
BSN is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:40 p.m.

Publications

Details

Sources
  • Expert
OMIM
604020
Clinvar variants
Variants in BSN
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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