Rhabdomyolysis and Metabolic Myopathy
Gene: TNNT1
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
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 listCreated: 29 May 2020, 7:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 5, Amish type MIM#605355
Publications
Gene: tnnt1 has been classified as Amber List (Moderate Evidence).
Gene: tnnt1 has been classified as Amber List (Moderate Evidence).
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