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DDG2P

Gene: TPM2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TPM2-related arthrogryposis, distal are strong, monoallelic_autosomal and undetermined (PMID:12592607). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01665.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:12592607).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; MONDO:0007157; TPM2-related arthrogryposis, distal; OMIM:108120.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
OMIM
190990
Clinvar variants
Variants in TPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TPM2 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TPM2. Mode of pathogenicity for gene TPM2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments