|
Timothy syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A.
|
25691416 |
2015 |
|
Timothy syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2).
|
23580742 |
2013 |
|
Timothy syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C).
|
21910241 |
2011 |
|
Timothy syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS.
|
27390944 |
2016 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
|
26822303 |
2016 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
|
26227324 |
2015 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis.
|
23578275 |
2014 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
|
23690510 |
2013 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2).
|
23580742 |
2013 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
|
21910241 |
2011 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.
|
19074970 |
2009 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.
|
18250309 |
2008 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
|
15863612 |
2005 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
Hydrops Fetalis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene.
|
25882468 |
2016 |
|
Timothy syndrome type 2
|
|
0.010 |
GeneticVariation
|
BEFREE |
An atypical form of Timothy syndrome type 2 (TS2) is caused by mutations in G406R and G402S in the alternatively spliced exon 8.
|
25691416 |
2015 |
|
Cardiac Arrest
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast to multiorgan disease caused by the mutation in G406R either in exon 8 A or 8, the G402S carrier manifested only an isolated cardiac phenotype with LQTS and cardiac arrest.
|
25691416 |
2015 |
|
Syndactyly
|
|
0.010 |
GeneticVariation
|
BEFREE |
The proband with severe syndactyly and delayed language skills was identified harboring a G406R mutation in CACNA1C.
|
23580742 |
2013 |