Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 Biomarker disease BEFREE The majority of P/LP variants in patients with CACNA1C-mediated LQT8 cluster in an SH3-binding domain of the cytosolic II-III loop. 31408100 2019
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 Biomarker disease GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 Biomarker disease BEFREE TRPM4 enlarges the subgroup of LQT genes (KCNJ2 in Andersen syndrome and CACNA1C in Timothy syndrome) known to increase the QT interval through a more complex pleiotropic effect than merely action potential alteration. 28315637 2017
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 GeneticVariation disease BEFREE Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2. 27593853 2016
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 GeneticVariation disease BEFREE Comprehensive review and topological mapping of all described CACNA1C mutations revealed TS-specific hotspots localizing to the cytoplasmic aspect of 6th transmembrane segment of respective domains. 27390944 2016
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 GeneticVariation disease BEFREE Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A. 25691416 2015
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
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
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
1.000 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
CUI: C1832916
Disease: Timothy syndrome
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