• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PCDH15 (HGNC:14674) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
protocadherin related 15
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
USH1F, DFNB23
Alias symbols
CDHR15
%HI
23.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.79(Read more about gnomAD LOEUF score)
Cytoband
10q21.1
Genomic Coordinates
GRCh37/hg19: chr10:55562531-57387702 NCBI Ensembl UCSC
GRCh38/hg38: chr10:53802771-55627942 NCBI Ensembl UCSC
MANE Select Transcript
NM_001384140.1 ENST00000644397.2 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_033056.4 ENST00000320301.11 (Read more about MANE Plus Clinical)
Function
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13550
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variation in PCDH15 has been reported in individuals with Usher syndrome 1 (USH1) and autosomal recessive nonsyndromic hearing loss (ARNSHL); furthermore, the overall evidence that PCDH15, when altered, can cause USH1 was expert reviewed by the ClinGen Hearing Loss Working Group (HLWG) and classified as DEFINITIVE. The evidence supporting the association between PCDH15 and ARNSHL was classified as MODERATE by the ClinGen HLWG after primary curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)