1. Panels
  2. Prepair 1000+
  3. TPM3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: TPM3

Green List (high evidence)
TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital myopathy-4B (CMYO4B) is an autosomal recessive disorder of the skeletal muscle characterized by the onset of muscle weakness in infancy or early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show congenital contractures, delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Affected individuals have respiratory insufficiency due to muscle weakness, which may be life-threatening.

Note GOF phenotype also present. Resulting in a significant hypercontractile phenotype with congenital muscle stiffness, rather than weakness, and respiratory failure in one PMID 26418456. GOF proposed - AD phenotype - Congenital myopathy 4A, autosomal dominant MIM#255310.
Created: 8 Oct 2024, 5:56 a.m. | Last Modified: 8 Oct 2024, 5:56 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 4B, autosomal recessive MIM#609284

Publications

Created: 8 Oct 2024, 5:56 a.m.
Last Modified: 8 Oct 2024, 5:56 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital myopathy 4B, autosomal recessive MIM#609284
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm3 has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPM3 were changed from Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) to Congenital myopathy 4B, autosomal recessive MIM#609284

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TPM3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM3 was added gene: TPM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)