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Arthrogryposis

Gene: TNNT3

Green List (high evidence)

TNNT3 (troponin T3, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130595
EnsemblGeneIds (GRCh37): ENSG00000130595
OMIM: 600692, Gene2Phenotype
TNNT3 is in 5 panels

2 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: One green review. The gene is not linked to a phenotype in G2P. One family report for association with arthrogryposis, distal, type 2B (PMID: 12865991) and one case for association with distal arthrogryposis-1 (PMID: 10525521) reported in OMIM. Additional studies identified in literature search; a 4-generation Indian family (PMID: 25337069), PMID: 23401156; 21402185; 19142688. Results in more than 3 unrelated cases, therefore should be promoted from red to green.
Created: 3 May 2016, 1:48 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • UKGTN
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Type 1
  • Distal Arthrogryposis Type 2B
OMIM
600692
Clinvar variants
Variants in TNNT3
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

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNT3 was added to Arthrogryposispanel. Source: UKGTN TNNT3 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNT3 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TNNT3 were set to PMID: 12865991; 10525521; 25337069; 23401156; 21402185; 19142688

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TNNT3 were set to Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 2B

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: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jul 2015, Gel status: 1

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene TNNT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TNNT3 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services