MYO3A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYO3A (HGNC:7601) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin IIIA
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB30
Alias symbols
No aliases found
%HI
26.3(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
10p12.1
Genomic Coordinates
GRCh37/hg19: chr10:26223158-26501461 NCBI Ensembl UCSC
GRCh38/hg38: chr10:25934229-26212532 NCBI Ensembl UCSC
MANE Select Transcript
NM_017433.5 ENST00000642920.2 (Read more about MANE Select)
Function
Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase patt... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16010
ClinGen Curation ID:
CCID:007510
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...
Last Evaluated:
03/06/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, autosomal recessive 30 Monarch
HI Evidence Comments:
Variation in MYO3A has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by severe to profound prelingual onset. Furthermore, the overall evidence that MYO3A, when altered, causes autosomal recessive nonsyndromic deafness was expert reviewed by the ClinGen Hearing Loss Working Group and classified as STRONG.

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)