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Hearing loss

Gene: BLOC1S6

Red List (low evidence)

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000104164
EnsemblGeneIds (GRCh37): ENSG00000104164
OMIM: 604310, Gene2Phenotype
BLOC1S6 is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

"PLDN" was submitted in an expert list, however is not a HGNC-approved symbol. Should this be BLOC1S6? No evidence for this gene and an association with hearing loss.
Created: 4 Mar 2016, 3:27 p.m.

History Filter Activity

4 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BLOC1S6 was created by ellenmcdonagh

4 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BLOC1S6 was added to Congenital hearing impairment (profound/severe)panel. Sources: Expert list