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Incidentalome v0.259 CACNA1C Bryony Thompson Tag cardiac tag was added to gene: CACNA1C.
Incidentalome v0.210 CACNA1C Zornitza Stark Tag review tag was added to gene: CACNA1C.
Incidentalome v0.172 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Incidentalome v0.172 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Incidentalome v0.172 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
Incidentalome v0.171 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Incidentalome v0.170 CACNA1C Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.169 CACNA1C Zornitza Stark changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.

Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.

Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group

DISPUTED for Brugada.

Sources: Expert list
Incidentalome v0.169 CACNA1C Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Hypertrophic cardiomyopathy, congenital heart defects, conduction abnormalities, Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447
Incidentalome v0.169 CACNA1C Zornitza Stark edited their review of gene: CACNA1C: Changed rating: GREEN
Incidentalome v0.169 CACNA1C Zornitza Stark changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.

Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert list
Incidentalome v0.169 CACNA1C Zornitza Stark changed review comment from: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list
Incidentalome v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1C was set to Unknown