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  2. Neuromuscular arthrogryposis
  3. MYH8
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Neuromuscular arthrogryposis

Gene: MYH8

Green List (high evidence)
MYH8 (myosin heavy chain 8)
EnsemblGeneIds (GRCh38): ENSG00000133020
EnsemblGeneIds (GRCh37): ENSG00000133020
OMIM: 160741, Gene2Phenotype
MYH8 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Created: 16 May 2019, 9:33 p.m.

Panel version: 0.16

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Phenotypes
Trismus-pseudocamptodactyly syndrome, 158300

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

Created: 16 May 2019, 9:27 p.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, 158300
OMIM
160741
Clinvar variants
Variants in MYH8
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH8.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYH8. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MYH8 was added gene: MYH8 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to Trismus-pseudocamptodactyly syndrome, 158300