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DDG2P

Gene: MYH3

Green List (high evidence)
MYH3 (myosin heavy chain 3)
EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related distal arthrogryposis are definitive, monoallelic_autosomal and undetermined (PMIDs: 16642020, 18695058). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01341. The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related spondylocarpotarsal synostosis syndrome are strong, biallelic_autosomal and loss of function (PMID:29805041). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02609.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 7 Oct 2023, 8:09 a.m.
Panel Version: 3.54

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:618469.0; MONDO:0020746; OMIM:193700.0; DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; MYH3-related spondylocarpotarsal synostosis syndrome; Recessive Spondylocarpotarsal Synostosis Syndrome; MYH3-related distal arthrogryposis

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:09 a.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A, and DISTAL ARTHROGRYPOSIS TYPE 2B).
Created: 19 Apr 2019, 3:10 p.m.
Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence.
Created: 19 Apr 2019, 3:09 p.m.
New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 19 Apr 2019, 3:07 p.m.
Original DDG2P rating: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, and confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B. DDG2P mode of pathogenicity for both disorders: uncertain. MOI for DISTAL ARTHROGRYPOSIS TYPE 2A: monoallelic. MOI for DISTAL ARTHROGRYPOSIS TYPE 2: monoallelic.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.24

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700
  • Recessive Spondylocarpotarsal Synostosis Syndrome
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MYH3 was changed from Other - please provide details in the comments to None

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: MYH3.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH3 were updated from 16642020; 29805041 to 29805041; 18695058; 16642020

19 Apr 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Apr 2019, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: MYH3.

19 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MYH3 were set to 16642020

19 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3 Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments