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  3. PCDH9
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Auditory Neuropathy

Gene: PCDH9

Red List (low evidence)
PCDH9 (protocadherin 9)
EnsemblGeneIds (GRCh38): ENSG00000184226
EnsemblGeneIds (GRCh37): ENSG00000184226
OMIM: 603581, Gene2Phenotype
PCDH9 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Was originally reported as a candidate gene for Autosomal dominant auditory neuropathy 1 (along with DIAPH3), but has since been excluded as a candidate gene.
Created: 13 Nov 2020, 5:31 a.m. | Last Modified: 13 Nov 2020, 5:31 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant auditory neuropathy 1

Publications

Created: 13 Nov 2020, 5:31 a.m.
Last Modified: 13 Nov 2020, 5:31 a.m.
Panel version: 0.16

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Non-syndromic auditory neuropathy spectrum disorder
OMIM
603581
Clinvar variants
Variants in PCDH9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pcdh9 has been classified as Red List (Low Evidence).

13 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PCDH9 was added gene: PCDH9 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: PCDH9 was set to Unknown Publications for gene: PCDH9 were set to 21176974 Phenotypes for gene: PCDH9 were set to Non-syndromic auditory neuropathy spectrum disorder