1. Panels
  2. Fetal anomalies
  3. MYH10
Genes in panel
Prev Next

Fetal anomalies

Gene: MYH10

Green List (high evidence)
MYH10 (myosin heavy chain 10)
EnsemblGeneIds (GRCh38): ENSG00000133026
EnsemblGeneIds (GRCh37): ENSG00000133026
OMIM: 160776, Gene2Phenotype
MYH10 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function.
Created: 25 Jul 2019, 8:18 a.m. | Last Modified: 25 Jul 2019, 8:18 a.m.
Panel Version: 0.318
Comment on phenotypes: Added Prenatal imaging phenotype reported in Petrovski et al., 2018 (PMID:30712878) Table 1.
Created: 25 Jul 2019, 8:17 a.m. | Last Modified: 25 Jul 2019, 8:17 a.m.
Panel Version: 0.317
This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: In Petrovski, ventriculomegaly & aqueduct stenosis; 2 reports in OMIM both VUS; one had hydrocephalus, and mouse knockout also has hydrocephalus.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Created: 25 Jul 2019, 8:04 a.m.
Last Modified: 25 Jul 2019, 8:04 a.m.
Panel version: 0.311

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • MYH10-related Multiple congenital anomalies
  • Bilateral ventriculomegaly
  • aqueductal stenosis
Tags
gene-checked
OMIM
160776
Clinvar variants
Variants in MYH10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: MYH10.

25 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MYH10 was added gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 30712878 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies