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Intellectual disability

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 19 Dec 2023, 12:31 p.m. | Last Modified: 19 Dec 2023, 12:31 p.m.
Panel Version: 5.351
16 individuals were identified with heterozygous MYH10 variants and they presented with a broad spectrum of neurodevelopmental disorders and variable congenital anomalies that affect most organ systems. These phenotypes were recapitulated in animal models of altered MYH10 activity. 11 of these 16 patients had global developmental delay and/ or intellectual disability.

This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM.
Created: 19 Dec 2023, 12:27 p.m. | Last Modified: 19 Dec 2023, 12:27 p.m.
Panel Version: 5.347

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 19 Dec 2023, 12:27 p.m.
Last Modified: 19 Dec 2023, 12:27 p.m.
Panel version: 5.347

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: Imported from Intellectual disability update Jan 2018 panel version 0.94

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
  • MYH10-related Multiple congenital anomalies
Tags
gene-checked
OMIM
160776
Clinvar variants
Variants in MYH10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2024, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: MYH10.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to MYH10. Source NHS GMS was added to MYH10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: myh10 has been classified as Amber List (Moderate Evidence).

19 Dec 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: MYH10.

19 Dec 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYH10 were changed from Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies

19 Dec 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies, Intellectual disability to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies

19 Dec 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: MYH10 were set to 25356899; 25003005

19 Dec 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH10 was added to Intellectual disability panel. Sources: Gene2Phenotype

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MYH10 was created by Ellen McDonagh