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  3. TNNT3
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Muscular dystrophy and myopathy_Paediatric

Gene: TNNT3

Green List (high evidence)
TNNT3 (troponin T3, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130595
EnsemblGeneIds (GRCh37): ENSG00000130595
OMIM: 600692, Gene2Phenotype
TNNT3 is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 unrelated families with nemaline myopathy and splice variants. Also, a supporting mouse model.
Sources: Other
Created: 5 Jun 2023, 5:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy MONDO:0018958

Publications

Created: 5 Jun 2023, 5:50 a.m.

Panel version: 0.197

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported. At least 5 unrelated families have been reported.

Evidence of GOF reported in PMID 17194691.

Gene encodes troponin T3.
Created: 16 Oct 2020, 9:39 a.m. | Last Modified: 16 Oct 2020, 9:39 a.m.
Panel Version: 0.300

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis, distal, type 2B2, MIM# 618435

Publications

Mode of pathogenicity
Other

Created: 16 Oct 2020, 9:39 a.m.
Last Modified: 16 Oct 2020, 9:39 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.300

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy MONDO:0018958
OMIM
600692
Clinvar variants
Variants in TNNT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnnt3 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnnt3 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TNNT3 was added gene: TNNT3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT3 were set to 33977145; 29266598; 23775847 Phenotypes for gene: TNNT3 were set to Nemaline myopathy MONDO:0018958 Review for gene: TNNT3 was set to GREEN