Limb girdle muscular dystrophy

Gene: TPM3

Red List (low evidence)

TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 3:31 p.m. | Last Modified: 28 Nov 2019, 4:09 p.m.
Panel Version: 1.108

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

CAP myopathy, nemaline myopathy, congenital myopathy with fibre type disproportion
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy; congenital myopathy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • CAP myopathy 1, 609284
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Nemaline myopathy
  • congenital myopathy
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tpm3 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TPM3.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TPM3.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TPM3 were changed from CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284; Nemaline myopathy; congenital myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 for gene: TPM3 Publications for gene TPM3 were changed from to 7704029; 10619715

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TPM3 was added gene: TPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TPM3 was set to