ClinGen Gene Validity Curations

Gene: PCDH15

Green List (high evidence)

PCDH15 (protocadherin related 15)
EnsemblGeneIds (GRCh38): ENSG00000150275
EnsemblGeneIds (GRCh37): ENSG00000150275
OMIM: 605514, Gene2Phenotype
PCDH15 is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Usher syndrome type 1F
  • OrphaNet ORPHA231169
  • OMIM602083
OMIM
605514
Clinvar variants
Variants in PCDH15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH15 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCDH15 was created by ellenmcdonagh

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH15 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen