• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OTOGL (HGNC:26901) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
otogelin like
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C12orf64
Alias symbols
FLJ90579
%HI
42.95(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.9(Read more about gnomAD LOEUF score)
Cytoband
12q21.31
Genomic Coordinates
GRCh37/hg19: chr12:80493317-80774660 NCBI Ensembl UCSC
GRCh38/hg38: chr12:80099537-80380880 NCBI Ensembl UCSC
MANE Select Transcript
NM_001378609.3 ENST00000547103.7 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17108
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:
  • autosomal recessive nonsyndromic hearing loss 84B Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)