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  3. TPM3
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Neuromuscular arthrogryposis

Gene: TPM3

Green List (high evidence)
TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 6 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • CAP myopathy 1, 609284
  • Myopathy, congenital, with fiber-type disproportion, 255310
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
OMIM
191030
Clinvar variants
Variants in TPM3
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 TPM3.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TPM3. 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: TPM3 was added gene: TPM3 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TPM3 were set to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284