Research panel - Severe Paediatric Disorders
Gene: TPM3

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TPM3; Recommended initial gene rating: Green List (high evidence); Phenotypes: CAP myopathy 1, 609284 (3) | Myopathy, congenital, with fiber-type disproportion, 255310 (3) | Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

191030

Clinvar variants

Variants in TPM3

Penetrance

None

Publications

30847515

Panels with this gene