Fetal anomalies
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: Imported from Arthrogryposis panel version 0.231

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services

Phenotypes

Arthrogryposis, distal, type 2B2, OMIM:618435
Arthrogryposis, distal, type 2B2, MONDO:0032750

OMIM

600692

Clinvar variants

Variants in TNNT3

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene