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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)