• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYH10 (HGNC:7568) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin heavy chain 10
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NMMHCB
%HI
34.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.17(Read more about gnomAD LOEUF score)
Cytoband
17p13.1
Genomic Coordinates
GRCh37/hg19: chr17:8377530-8534043 NCBI Ensembl UCSC
GRCh38/hg38: chr17:8474212-8630725 NCBI Ensembl UCSC
MANE Select Transcript
NM_001256012.3 ENST00000360416.8 (Read more about MANE Select)
Function
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. {ECO:0000269|PubMed:20052411, ECO:0000... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28047
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/23/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 25003005
    Tuzovic et al (2013) identified a de novo heterozygous nonsense MYH10 variant (p.E908X) in a patient with severe intellectual disability, microcephaly and multiple congenital anomalies including congenital diaphragmatic hernia. Iglesias et at (2014) also described the same patient in their whole-genome sequencing report (PMID: 24901346). The myosin heavy chain 10 (MYH10) gene encodes for non-muscle myosin IIB (NM IIB). Tuzovic et al generated a mouse model with a hypomorphic, homozygous R709C missense mutation in the motor domain of NM IIB. In this study, the homozygous mutants show 73% reduction in the expression of the NMHC-IIB and died in the early postnatal period. Brain tissue obtained from homozygous mutant mice show distorted cerebral cortex due to hydrocephalus and small and underdeveloped cerebellum. Those that survived longer showed severe growth retardation and progressive hydrocephalus and ataxia. Heterozygous mutants survived to adulthood without any obvious abnormalities. Further studies on germline ablated NMHC IIB mice and R709C mutant mice showed that both developed progressive hydrocephalus starting from E11.5, although the R709C mice develop it at a slower rate.
  • PUBMED: 25284784
    Dong et al (2014) described a de novo frameshift MYH10 variant in a patient with intellectual disability and autism spectrum disorder.
  • PUBMED: 25363768
    Iossifov et al (2014) identified de novo one frameshift and two missense variants in MYH10 in patients with autism spectrum disorder.
HI Evidence Comments:
Several missense, nonsense, and frameshift variants have been identified in myosin heavy chain 10 (MYH10) in patients with neurodevelopmental disorders, including autism spectrum disorder and intellectual disability (PMIDs: 25003005; 25363768; 25356899; 24901346; 25284784; 24901346; 25849321). However, there are currently no reported partial or entire deletions of MYH10. In humans, myosin heavy chain 10 (MYH10) encodes for the heavy chain of non-muscle myosin IIB (NM IIB). NM IIB is enriched in neuronal tissue during mouse embryonic development and is critical for neuronal cell migration in cerebral cortex, cerebellum and pontine and facial neurons (PMIDs: 15034141; 16481398). NM IIB also plays a critical role in mouse cardiac development and is expressed in the cardiac myocytes during embryonic development (PMID: 9356462). Further, germline homozygous loss of function mutations in NM IIB are embryonically lethal in mice and are associated with severe progressive hydrocephalus (PMID: 11283949).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There have been no reports of entire duplications of MYH10. At this time there is no evidence that supports the triplosensitivity of this gene.

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)