PCDH15 |
- 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:
- Usher syndrome type 1F Monarch
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)