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 |
To our knowledge, this patient is the first to exhibit syndactyly and to carry a CACNA1C mutation but to not have QT prolongation, which has long been considered an obligatory feature of Timothy syndrome.
|
29736926 |
2018 |
Timothy syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A multicentre study of patients with Timothy syndrome.
|
28371864 |
2018 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Emerging therapeutic targets in the short QT syndrome.
|
29697308 |
2018 |
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 |
The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome.
|
28753255 |
2018 |
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 |
Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.
|
26253506 |
2015 |
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 |
Biomarker
|
disease |
MGD |
Mouse model of Timothy syndrome recapitulates triad of autistic traits.
|
21878566 |
2011 |
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
|
27868338 |
2017 |
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 Timothy syndrome mutation is a rare de novo gain-of-function variant in CACNA1C that causes autism with high penetrance, providing a powerful avenue into investigating the role of CACNA1C variants in neurodevelopmental disorders.
|
31805042 |
2019 |
Timothy syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
UNIPROT |
Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.
|
26253506 |
2015 |
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 |
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 |
Furthermore, rare mutation in CACNA1C is suggested to cause Timothy syndrome, a multisystem disorder including autism-associated phenotype.
|
26204268 |
2015 |