Congenital myopathy

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110

Publications

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Weakness is reported as part of the phenotype in some cases therefore appropriate to include.
Created: 22 Feb 2017, 11:09 a.m.
Comment on list classification: On reflection, although cases present with arthrogryposis, some of them had weakness and therefore the phenotype would be appropriate for inclusion. Discussed with Arianna Tucci for a second opinion who agrees.
Created: 22 Feb 2017, 11:08 a.m.
Comment when marking as ready: Sufficient unrelated families for causation, however, presentation is of arthrogryposis with or without myopathy. I cannot find evidence of myopathy in isolation and therefore considered more appropriate for arthrogryposis panel (green there already)
Created: 3 Feb 2017, 2:23 p.m.
Comment on list classification: Sufficient unrelated families for causation, however, presentation is of arthrogryposis with or without myopathy. I cannot find evidence of myopathy in isolation and therefore considered more appropriate for arthrogryposis panel.
Created: 3 Feb 2017, 2:20 p.m.
>4 unrelated families and therefore evidence of causation is satisfactory but main presentation is with arthrogryposis. However, some cases have been reported to have muscle weakness and delayed motor milestones.
Created: 31 Jan 2017, 11:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 2B 601680
  • Arthrogryposis, distal, type 8 178110
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH3.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYH3. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MYH3 were set to Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYH3 were set to 18695058; 26578207

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MYH3 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYH3 was added to Congenital myopathypanel. Sources: UKGTN