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Hearing loss

Gene: BLOC1S5

Red List (low evidence)

BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000188428
EnsemblGeneIds (GRCh37): ENSG00000188428
OMIM: 607289, Gene2Phenotype
BLOC1S5 is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

"MUTED" was submitted in an expert list, however it is not a HGNC-approved symbol. Should this be BLOC1S5? No evidence found for an association with hearing loss.
Created: 4 Mar 2016, 3:27 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert list
OMIM
607289
Clinvar variants
Variants in BLOC1S5
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BLOC1S5 was added to Congenital hearing impairment (profound/severe)panel. Sources: Expert list

4 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BLOC1S5 was created by ellenmcdonagh