1. Panels
  2. Intellectual disability update Jan 2018
  3. MYH10
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability update Jan 2018

Gene: MYH10

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on mode of inheritance: This is a possible DD gene in Gene2Phenotype for MYH10-related Multiple congenital anomalies, where the MOI has been assigned
Created: 26 Feb 2018, 11:57 a.m.
Currently there is not enough evidence to support this gene being upgraded from the Red rating
Created: 26 Feb 2018, 11:55 a.m.
Comment on phenotypes: To date there is no OMIM gene-phenotype as this has not been confirmed since both of the reported cases (PMID:25003005, 24901346,25356899) the variants have been classified as a variant of unknown significance because its contribution to a complex neurologic phenotype has not been confirmed.
Created: 26 Feb 2018, 11:54 a.m.
Comment on publications: added publications to support the association to ID phenotype
Created: 26 Feb 2018, 11:50 a.m.
Created: 26 Feb 2018, 11:50 a.m.

Panel version: 0.94

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Gene2Phenotype
Phenotypes
  • MYH10-related Multiple congenital anomalies, Intellectual disability
OMIM
160776
Clinvar variants
Variants in MYH10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

26 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYH10 were set to MYH10-related Multiple congenital anomalies, Intellectual disability

26 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYH10 were set to 25356899; 25003005

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH10 was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MYH10 was created by Ellen McDonagh