Arthrogryposis
Gene: TNNT3

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

1 review

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, 9:42 a.m. | Last Modified: 16 Oct 2020, 9:42 a.m.

Panel Version: 0.231

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, 9:42 a.m.
Last Modified: 16 Oct 2020, 9:42 a.m.
Panel version: 0.231

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arthrogryposis, distal, type 2B2, MIM# 618435

OMIM

600692

Clinvar variants

Variants in TNNT3

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene