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Hearing loss

Gene: OTOP1

Red List (low evidence)

OTOP1 (otopetrin 1)
EnsemblGeneIds (GRCh38): ENSG00000163982
EnsemblGeneIds (GRCh37): ENSG00000163982
OMIM: 607806, Gene2Phenotype
OTOP1 is in 1 panel

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

OTOP1 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:07 a.m.
OTOP1 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:44 p.m.

Publications

Details

Sources
  • Expert
OMIM
607806
Clinvar variants
Variants in OTOP1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert