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Arthrogryposis

Gene: TPM2

Green List (high evidence)
TPM2 (tropomyosin 2)
EnsemblGeneIds (GRCh38): ENSG00000198467
EnsemblGeneIds (GRCh37): ENSG00000198467
OMIM: 190990, Gene2Phenotype
TPM2 is in 5 panels

3 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Escobar syndrome is biallelic PMID: 19155175.
Created: 3 May 2016, 9:34 a.m.
Comment on list classification: Two green expert reviews, and is a probable DD gene for arthrogryposis, distal type 1.
Created: 3 May 2016, 9:29 a.m.
Created: 3 May 2016, 9:29 a.m.

Panel version: 0.5

Julie Vogt (West Midlands Regional Genetics Service)

Green List (high evidence)

deletions/insertions/ missense mutations
homozygous null mutations reported in Escobar syndrome
Created: 19 Oct 2015, 9:18 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
distal arthrogryposis; Escobar syndrome; congenital myopathy

Publications

Created: 19 Oct 2015, 9:18 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
  • Arthrogryposis, distal, type 2B, 601680
  • Nemaline myopathy 4, autosomal dominant, 609285
  • CAP myopathy 2, 609285
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 1A
  • DA1A
  • Arthrogryposis, Distal, Type 2B
  • DA2B
  • distal arthrogryposis
  • Escobar syndrome
  • congenital myopathy
  • nemaline myopathy
  • Nemaline Myopathy, Dominant
OMIM
190990
Clinvar variants
Variants in TPM2
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.

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TPM2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TPM2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TPM2 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TPM2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TPM2 were set to Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680; Nemaline myopathy 4, autosomal dominant, 609285; CAP myopathy 2, 609285; Arthrogryposis Multiplex Congenita; Arthrogryposis, Distal, Type 1A; DA1A; Arthrogryposis, Distal, Type 2B; DA2B; distal arthrogryposis; Escobar syndrome; congenital myopathy

3 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TPM2 were set to PMID: 19155175; 22749895; 17846275; 23413262

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

TPM2 was added to Arthrogryposispanel. Sources: UKGTN

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene TPM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

TPM2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TPM2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen