| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.19 | CALM3 | Zornitza Stark Publications for gene: CALM3 were set to 27516456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.18 | CALM3 | Zornitza Stark Classified gene: CALM3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.18 | CALM3 | Zornitza Stark Gene: calm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CALM3 | Ivan Macciocca reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: LQTS, idiopathic VF, sudden unexplained death; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM3 | Zornitza Stark Classified gene: CALM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM3 | Zornitza Stark Gene: calm3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 | CALM3 | Zornitza Stark reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: None; Publications: 27516456; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic 6 618782; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 | CALM3 | Zornitza Stark Marked gene: CALM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 | CALM3 | Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 | CALM3 | Zornitza Stark Phenotypes for gene: CALM3 were changed from to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.8 | CALM3 | Zornitza Stark Publications for gene: CALM3 were set to 31454269; 27516456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.7 | CALM3 | Zornitza Stark Publications for gene: CALM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.6 | CALM3 | Zornitza Stark Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 | CALM3 |
Ain Roesley changed review comment from: PMID: 31454269; 4 families including 1 consanguineous family. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val; to: PMID: 31454269; 4 families including 1 consanguineous family with LQTS. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 | CALM3 | Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31454269; Phenotypes: Long QT syndrome 16 (MIM# 618782); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | CALM3 |
Zornitza Stark gene: CALM3 was added gene: CALM3 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALM3 was set to Unknown |
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