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  3. PCDH15
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Usher Syndrome

Gene: PCDH15

Green List (high evidence)
PCDH15 (protocadherin related 15)
EnsemblGeneIds (GRCh38): ENSG00000150275
EnsemblGeneIds (GRCh37): ENSG00000150275
OMIM: 605514, Gene2Phenotype
PCDH15 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The association with Usher syndrome is well established, reported in multiple families, and supported by functional data. DEFINITIVE by ClinGen.

The association with isolated deafness is less convincing, and many of the reported individuals have not been fully phenotyped to exclude retinal disease.
Created: 1 Oct 2020, 7:05 a.m. | Last Modified: 1 Oct 2020, 7:05 a.m.
Panel Version: 0.539

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533

Publications

Created: 1 Oct 2020, 7:05 a.m.
Last Modified: 1 Oct 2020, 7:05 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.539

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome Type 1F
  • Usher syndrome, type 1D/F digenic
OMIM
605514
Clinvar variants
Variants in PCDH15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcdh15 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCDH15 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PCDH15 was added gene: PCDH15 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome Type 1F; Usher syndrome, type 1D/F digenic