Limb girdle muscular dystrophy

Gene: TPM2

Red List (low evidence)

TPM2 (tropomyosin 2)
EnsemblGeneIds (GRCh38): ENSG00000198467
EnsemblGeneIds (GRCh37): ENSG00000198467
OMIM: 190990, Gene2Phenotype
TPM2 is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 3:32 p.m. | Last Modified: 28 Nov 2019, 4:09 p.m.
Panel Version: 1.108

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Arthrogryposis (distal), CAP myopathy, nemaline myopathy
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis multiplex congenita, distal, type 1, 108120

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
OMIM
190990
Clinvar variants
Variants in TPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tpm2 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TPM2.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TPM2.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 for gene: TPM2 Publications for gene TPM2 were changed from to 7977374; 12592607

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TPM2 was added gene: TPM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TPM2 was set to