CDH15
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDH15 (HGNC:1754) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cadherin 15
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CDH3, CDH14
Alias symbols
No aliases found
%HI
74.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.41(Read more about gnomAD LOEUF score)
Cytoband
16q24.3
Genomic Coordinates
GRCh37/hg19: chr16:89238156-89261900 NCBI Ensembl UCSC
GRCh38/hg38: chr16:89171748-89195492 NCBI Ensembl UCSC
MANE Select Transcript
NM_004933.3 ENST00000289746.3 (Read more about MANE Select)
Function
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12948
ClinGen Curation ID:
CCID:006819
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/08/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • intellectual disability, autosomal dominant 3 Monarch
HI Evidence Comments:
Bhalla et al (2008, PMID: 19012874) reported a patient with intellectual disability and syndactyly who had a balanced translocation that disrupted CDH15, as well as KIRREL3 at the other breakpoint. Both genes are expressed in the brain and both had reduced expression. The authors then screened coding regions of CDH15 in a cohort of patients with ID and controls and identified four nonsynonymous CDH15 variants that impaired cell-cell adhesion in mouse L-cells. However, 3 missense mutation in the KIRRELL3 gene were also identified in this cohort. No whole gene deletion or duplication reported in the literature. Bhalla reports nonsynonymous sequence variants in patients with intellectual disability but haploinsufficiency has not been proven.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)