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  3. TNNT1
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Rhabdomyolysis and Metabolic Myopathy

Gene: TNNT1

Amber List (moderate evidence)
TNNT1 (troponin T1, slow skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000105048
EnsemblGeneIds (GRCh37): ENSG00000105048
OMIM: 191041, Gene2Phenotype
TNNT1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants initially identified in Amish, but multiple families from different ethnicities now reported. Ovine animal model. Single family segregating a mono-allelic variant reported in PMID 29178646.
Created: 16 Oct 2020, 9:51 a.m. | Last Modified: 16 Oct 2020, 9:51 a.m.
Panel Version: 0.4968

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type, MIM# 605355

Publications

Created: 16 Oct 2020, 9:51 a.m.
Last Modified: 16 Oct 2020, 9:51 a.m.
Panel version: Imported from Mendeliome panel version 0.4968

Bryony Thompson (Royal Melbourne Hospital)

I don't know

4 individuals belonging to 3 apparently unrelated families of French Canadian ancestry
harbouring a novel homozygous TNNT1 (NM_003283.6:c.287T>C; p.Leu96Pro) missense with recurrent episodes of rhabdomyolysis.
Sources: Expert list
Created: 29 May 2020, 7:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type MIM#605355

Publications

Created: 29 May 2020, 7:08 a.m.

Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 5, Amish type MIM#605355
OMIM
191041
Clinvar variants
Variants in TNNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnnt1 has been classified as Amber List (Moderate Evidence).

29 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnnt1 has been classified as Amber List (Moderate Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TNNT1 was added gene: TNNT1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT1 were set to 31970803 Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type MIM#605355 Review for gene: TNNT1 was set to AMBER