|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Timothy syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
Timothy syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
Timothy syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
|
15863612 |
2005 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies implicate CACNA1C (L-type Ca(V)1.2) calcium channel mutations in a disorder associated with autism (Timothy syndrome).
|
16754686 |
2006 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene families and genetic lesions underlying familial hemiplegic migraine, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogenic mitochondrial migraine syndromes, provide a robust platform from which genes, such as CACNA1C, which encodes the calcium channel mutated in Timothy syndrome, can be evaluated for their role in autism and bipolar disease.
|
19154521 |
2009 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among them, the Timothy syndrome (TS) is linked to missense mutations in CACNA1C, the gene that encodes the Ca(v)1.2 subunit.
|
21664226 |
2011 |
|
Timothy syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mouse model of Timothy syndrome recapitulates triad of autistic traits.
|
21878566 |
2011 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly).
|
22106044 |
2012 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy Syndrome (TS), a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted unexpected roles for the L-type voltage-gated Ca2+ channel CaV1.2 in nonexcitable cells.
|
23549079 |
2013 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
Biomarker
|
disease |
BEFREE |
The identification of a functional CACNA1C mutation cosegregating with disease in a single pedigree suggests that CACNA1C perturbations may underlie autosomal dominant LQTS in the absence of Timothy syndrome.
|
23677916 |
2013 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although full TS1 is caused by a single missense mutation in the CACNA1C-encoded cardiac calcium channel, mosaic TS1 parents can display isolated syndactyly without additional phenotypic manifestations.
|
23690510 |
2013 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells.
|
23979604 |
2014 |
|
Timothy syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genotype- and phenotype-guided management of congenital long QT syndrome.
|
24093767 |
2013 |
|
Timothy syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants.
|
24728418 |
2014 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants.
|
24728418 |
2014 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By altering the kinetic parameters, the mutations are reminiscent of the CACNA1C mutation causing Timothy Syndrome, a Mendelian disease presenting with ASD.
|
24752249 |
2014 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS).
|
25184293 |
2014 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p.Ile1166Thr-CACNA1C.
|
25260352 |
2015 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing revealed a novel CACNA1C mutation, p.Ile1166Thr, in a young male with diagnosed TS.
|
25260352 |
2015 |
|
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQTS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS.
|
25633834 |
2015 |