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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

1 review

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 2A 193700
  • DISTAL ARTHROGRYPOSIS TYPE 2B 601680
  • Recessive Spondylocarpotarsal Synostosis Syndrome
Tags
watchlist
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

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