Arthrogryposis
Gene: TNNI2

TNNI2 (troponin I2, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130598
EnsemblGeneIds (GRCh37): ENSG00000130598
OMIM: 191043, Gene2Phenotype
TNNI2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.
Created: 17 Sep 2020, 5:30 a.m. | Last Modified: 17 Sep 2020, 5:30 a.m.

Panel Version: 0.207

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis, distal, type 2B1, MIM# 601680

Publications

Created: 17 Sep 2020, 5:30 a.m.
Last Modified: 17 Sep 2020, 5:30 a.m.
Panel version: 0.207

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arthrogryposis, distal, type 2B1, MIM# 601680

OMIM

191043

Clinvar variants

Variants in TNNI2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene