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Severe Paediatric Disorders

Gene: TPM3

Green List (high evidence)

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

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
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TPM3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TPM3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TPM3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, 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 Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TPM3 was set to