Limb girdle muscular dystrophy

Gene: TNNT3

Red List (low evidence)

TNNT3 (troponin T3, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130595
EnsemblGeneIds (GRCh37): ENSG00000130595
OMIM: 600692, Gene2Phenotype
TNNT3 is in 5 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, 4:08 p.m. | Last Modified: 28 Nov 2019, 4:08 p.m.
Panel Version: 1.108

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis, distal, type 2B, 601680

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, distal, type 2B, 601680
  • Arthrogryposis
OMIM
600692
Clinvar variants
Variants in TNNT3
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: tnnt3 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 TNNT3.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TNNT3.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3 Publications for gene TNNT3 were changed from to 12865991; 12592607

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TNNT3 was added gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TNNT3 was set to