Activity
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9 actions
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.32 | CALM2 | Ain Roesley Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 | CALM2 | Zornitza Stark Marked gene: CALM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 | CALM2 | Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 | CALM2 | Zornitza Stark Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 616249; sudden unexplained death; idopathic VF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.20 | CALM2 | Zornitza Stark Publications for gene: CALM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM2 | Ivan Macciocca edited their review of gene: CALM2: Changed publications: PMID: 31170290; Changed phenotypes: LQTS, sudden unexplained death, idopathic VF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM2 |
Ivan Macciocca changed review comment from: Not assessed by ClinGen as at 03.05.2020. Green in PanelApp GEL Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least: - 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD - 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD - 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively. Calmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020); to: Not assessed by ClinGen as at 03.05.2020. Green in PanelApp GEL Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least: - 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD - 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD - 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively. Calmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020) |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM2 | Ivan Macciocca commented on gene: CALM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | CALM2 |
Zornitza Stark gene: CALM2 was added gene: CALM2 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALM2 was set to Unknown |
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