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.

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

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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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
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 TPM3.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to TPM3. 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.

2 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).

2 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for TPM3 were set to CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284

2 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for TPM3 were set to 24692096

2 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for TPM3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 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).

13 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

TPM3 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

TPM3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TPM3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TPM3 was added to Congenital myopathypanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TPM3 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory