Muscular dystrophy and myopathy_Paediatric

Gene: TPM2

Green List (high evidence)

TPM2 (tropomyosin 2)
EnsemblGeneIds (GRCh38): ENSG00000198467
EnsemblGeneIds (GRCh37): ENSG00000198467
OMIM: 190990, Gene2Phenotype
TPM2 is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

- Variable age of onset
- Phenotypic symptoms overlap with CAP syndrome

PMID: 17846275
2 individuals identified with mutations in TPM2 however only one had clinical features and a muscle biopsy (with an accumulation of nemaline rods), concordant with nemaline myopathy.

PMID: 23378224
8 individuals from 5 unrelated families
Presence of congenital contractures in early childhood and all had the presence of rods in their muscle biopsies
Sources: Other
Created: 9 May 2023, 3:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nemaline myopathy 4, autosomal dominant (MIM#609285)

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in patients with a congenital muscle weakness phenotype, likely due to loss-of-function variants.
Created: 1 Jul 2020, 5:49 a.m. | Last Modified: 1 Jul 2020, 5:49 a.m.
Panel Version: 0.246

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CAP myopathy 2 (MIM#609285); Nemaline myopathy 4, autosomal dominant (MIM#609285)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 4, autosomal dominant (MIM#609285)
OMIM
190990
Clinvar variants
Variants in TPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tpm2 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tpm2 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TPM2 was added gene: TPM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 17846275; 23378224 Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant (MIM#609285) Review for gene: TPM2 was set to GREEN