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Severe Paediatric Disorders

Gene: MYH3

Green List (high evidence)

MYH3 (myosin heavy chain 3)
EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MYH3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3) | Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3) | Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 (3) | Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469
  • Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MYH3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 for gene: MYH3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MYH3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYH3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MYH3 was added gene: MYH3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MYH3 was set to