Genes in panel

Hereditary neuropathy

Gene: MYOZ2

Red List (low evidence)

MYOZ2 (myozenin 2)
EnsemblGeneIds (GRCh38): ENSG00000172399
EnsemblGeneIds (GRCh37): ENSG00000172399
OMIM: 605602, Gene2Phenotype
MYOZ2 is in 3 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Cardiomyopathy

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.

Details

Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy
OMIM
605602
Clinvar variants
Variants in MYOZ2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy for gene: MYOZ2

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYOZ2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MYOZ2.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYOZ2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory