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Arthrogryposis

Gene: TPM3

Green List (high evidence)

TPM3 (tropomyosin 3)
EnsemblGeneIds (GRCh38): ENSG00000143549
EnsemblGeneIds (GRCh37): ENSG00000143549
OMIM: 191030, Gene2Phenotype
TPM3 is in 5 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Congenital contractures may be present
Created: 22 Dec 2016, 10:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with fiber-type disproportion 255310

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert list
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Myopathy, congenital, with fiber-type disproportion 255310
OMIM
191030
Clinvar variants
Variants in TPM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TPM3 were set to ; nemaline myopathy; Nemaline Myopathy; Nemaline myopathy 1, autosomal dominant or recessive, 609284;Myopathy, congenital, with fiber-type disproportion 255310

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TPM3 were set to 18300303

22 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for TPM3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TPM3 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TPM3 was added to Arthrogryposispanel. Source: UKGTN TPM3 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services TPM3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TPM3 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene TPM3 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TPM3 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TPM3 was created by ellenmcdonagh