Arthrogryposis
Gene: TNNT1

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

1 review

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.

Antenatal presentation with arthrogryposis/akinesia reported.
Created: 16 Oct 2020, 9:53 a.m. | Last Modified: 16 Oct 2020, 9:53 a.m.

Panel Version: 0.235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type, MIM# 605355

Publications

Created: 16 Oct 2020, 9:53 a.m.
Last Modified: 16 Oct 2020, 9:53 a.m.
Panel version: 0.235

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
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