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  2. Congenital muscular dystrophy and congenital myopathy
  3. TPM3
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Congenital muscular dystrophy and congenital myopathy

Gene: TPM3

Green List (high evidence)
TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 6 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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.112

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

Publications

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.112

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

please note that adult onset forms of TTN gene related conditions have monoallelic inheritance
Created: 6 Mar 2017, 12:14 p.m.

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

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.112

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Many families, spans infancy in terms of onset. Mainly mono-allelic but biallelic in 10%
Created: 2 Feb 2017, 12:17 p.m.
Comment on mode of inheritance: Of 40 families in the referenced paper, 4 had biallelic mutations.
Created: 2 Feb 2017, 12:16 p.m.
Comment on list classification: Many families, variable presentation but spans early onset.
Created: 2 Feb 2017, 12:14 p.m.
Dominant appear to be most common and associated with missense mutations. AR case identified was with truncating mutations. Onset spans infancy therefore included.
Created: 26 Jan 2017, 1:20 p.m.

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

Publications

Created: 26 Jan 2017, 1:20 p.m.

Copied from panel: Congenital myopathy v3.112

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • UKGTN
Phenotypes
  • CAP myopathy 1, OMIM:609284
  • Myopathy, congenital, with fiber-type disproportion, OMIM:255310
  • Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TPM3 was added gene: TPM3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPM3 were set to 24692096 Phenotypes for gene: TPM3 were set to CAP myopathy 1, OMIM:609284; Myopathy, congenital, with fiber-type disproportion, OMIM:255310; Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 Penetrance for gene: TPM3 were set to Complete