OTOA
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OTOA (HGNC:16378) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
otoancorin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB22
Alias symbols
CT108
%HI
64.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.82(Read more about gnomAD LOEUF score)
Cytoband
16p12.2
Genomic Coordinates
GRCh37/hg19: chr16:21675289-21772050 NCBI Ensembl UCSC
GRCh38/hg38: chr16:21663968-21760729 NCBI Ensembl UCSC
MANE Select Transcript
NM_144672.4 ENST00000646100.2 (Read more about MANE Select)
Function
May act as an adhesion molecule. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33757
ClinGen Curation ID:
CCID:007601
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, autosomal recessive 22 Monarch
HI Evidence Comments:
Variation in OTOA has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by severe to profound prelingual onset. Furthermore, the overall evidence that OTOA, when altered, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

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)