×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
CausalMutation
disease
CLINVAR
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
CTD_human
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GeneticVariation
disease
UNIPROT
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
12592607
2003
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GeneticVariation
disease
BEFREE
A TNNI2 mutation in a family with distal arthrogryposis type 2B .
16497570
2009
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GeneticVariation
disease
BEFREE
Last year, we discovered a novel heterozygous mutation c.523_525delAAG (p.K175del ) in the TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B).
17380469
2007
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
BEFREE
Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome ).
19142688
2009
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
BEFREE
DA2B , or Sheldon-Hall syndrome (SHS; MIM 601680), is intermediate to DA1 and DA2A, or Freeman-Sheldon syndrome (FSS; MIM193700), and shows prominent facial traits.
21402185
2011
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GermlineCausalMutation
disease
ORPHANET
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
23401156
2013
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
GENOMICS_ENGLAND
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
23850728
2013
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
GENOMICS_ENGLAND
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
25087613
2014
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
BEFREE
However, the current knowledge concerning TNNI2 could not explain the small body phenotype of DA2B mice.
25340332
2014
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
Biomarker
disease
MGD
However, the current knowledge concerning TNNI2 could not explain the small body phenotype of DA2B mice.
25340332
2014
×
Entrez Id:
7136
Gene Symbol:
TNNI2
TNNI2
0.960
GeneticVariation
disease
BEFREE
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B ).
29625835
2018