| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Catecholaminergic Polymorphic Ventricular Tachycardia v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.37 | ANK2 | Chirag Patel Marked gene: ANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.37 | ANK2 | Chirag Patel Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.37 | ANK2 |
Chirag Patel gene: ANK2 was added gene: ANK2 was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: ClinGen disputed tags were added to gene: ANK2. Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK2 were set to Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Review for gene: ANK2 was set to RED Added comment: ClinGen DISPUTED - Jan 2021 Sources: ClinGen |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.36 | PKP2 | Chirag Patel Marked gene: PKP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.36 | PKP2 | Chirag Patel Gene: pkp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.36 | PKP2 |
Chirag Patel gene: PKP2 was added gene: PKP2 was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: ClinGen disputed tags were added to gene: PKP2. Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Review for gene: PKP2 was set to RED Added comment: ClinGen DISPUTED - Jan 2021 Sources: ClinGen |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.35 | KCNJ2 | Chirag Patel Tag disputed tag was added to gene: KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.35 | KCNJ2 | Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Andersen Tawil syndrome, LQTS to catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.34 | KCNJ2 | Zornitza Stark Classified gene: KCNJ2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.34 | KCNJ2 | Zornitza Stark Gene: kcnj2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 | KCNJ2 | Sangavi Sivagnanasundram reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 | CASQ2 | Zornitza Stark Tag treatable tag was added to gene: CASQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 | Zornitza Stark List of related panels changed from to Polymorphic ventricular tachycardia HP:0031677 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.31 | TECRL | Zornitza Stark Publications for gene: TECRL were set to 17666061; 27861123; 30790670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 | TECRL | Zornitza Stark reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 | TRDN | Zornitza Stark Marked gene: TRDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 | TRDN | Zornitza Stark Gene: trdn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 | TRDN | Zornitza Stark Phenotypes for gene: TRDN were changed from to Triadin knockout syndrome; CPVT; atypical LQTS phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.29 | TRDN | Zornitza Stark Publications for gene: TRDN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.28 | CASQ2 | Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.27 | TRDN | Zornitza Stark Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | CASQ2 | Daniel Flanagan reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TRDN | Daniel Flanagan reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Triadin knockout syndrome, CPVT, atypical LQTS phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Marked gene: TECRL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Phenotypes for gene: TECRL were changed from CPVT to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 | TECRL | Zornitza Stark Classified gene: TECRL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 | TECRL | Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 | CALM1 | Zornitza Stark Marked gene: CALM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 | CALM1 | Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 | CALM1 | Zornitza Stark Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.23 | CALM1 | Zornitza Stark Publications for gene: CALM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.22 | CALM1 | Zornitza Stark Mode of inheritance for gene: CALM1 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 v0.19 | 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 v0.17 | TECRL |
Ivan Macciocca gene: TECRL was added gene: TECRL was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: Literature Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECRL were set to 17666061; 27861123; 30790670 Phenotypes for gene: TECRL were set to CPVT Penetrance for gene: TECRL were set to Complete Review for gene: TECRL was set to GREEN Added comment: As at 03/06/2020, not assessed by ClinGen for association with CPVT; and is associated with CPVT3 in OMIM. Amber on GEL PanelApp Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence. - 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins) - 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins) - 30790670 reported in a single family with one child with features of CPVT This gene meets criteria for green. Sources: Literature |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 | TRDN | Ivan Macciocca reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30649896, 25922419, 22422768; Phenotypes: triadin knockout syndrome, LQTS, CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 | CASQ2 | Zornitza Stark Marked gene: CASQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 | CASQ2 | Zornitza Stark Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.16 | CASQ2 | Zornitza Stark Publications for gene: CASQ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.15 | CASQ2 | Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 | KCNJ2 | Zornitza Stark Marked gene: KCNJ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 | KCNJ2 | Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 | KCNJ2 | Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen Tawil syndrome, LQTS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.13 | KCNJ2 | Zornitza Stark Publications for gene: KCNJ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.12 | KCNJ2 | Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.11 | KCNJ2 | Zornitza Stark Classified gene: KCNJ2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.11 | KCNJ2 | Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | KCNJ2 | Ivan Macciocca reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31020160, 22589293, 26322597; Phenotypes: Andersen Tawil syndrome, LQTS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CASQ2 |
Ivan Macciocca changed review comment from: not curated by ClinGen as at 03/05/2020 Green in PanelApp GEL Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.; to: not curated by ClinGen as at 03/05/2020 Green in PanelApp GEL Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected, although there is at least 1 report of a multi-generation family with affected heterozygotes (PMID: 27157848) - this variant is absent from Gnomad as at 03/06/2020). Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the original gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac. |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CASQ2 |
Ivan Macciocca changed review comment from: not curated by ClinGen as at 03/05/2020 Green in PanelApp GEL Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect.; to: not curated by ClinGen as at 03/05/2020 Green in PanelApp GEL Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac. |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CASQ2 | Ivan Macciocca reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: OMID: 611938, 611938; Phenotypes: CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | CALM2 | Ivan Macciocca commented on gene: CALM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | CALM1 | Ivan Macciocca reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: CPVT, LQTS, idiopathic VF; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 | RYR2 | Ivan Macciocca changed review comment from: rated as definitive by ClinGen; to: rated as definitive by ClinGen 03/08/2017 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.5 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.5 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.5 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.4 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 | RYR2 | Ivan Macciocca reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: 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 v0.3 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.2 | Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia_CPVT to Catecholaminergic Polymorphic Ventricular Tachycardia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.1 |
Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS to Catecholaminergic polymorphic ventricular tachycardia_CPVT Panel types changed to Victorian Clinical Genetics Services |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | TRDN |
Zornitza Stark gene: TRDN was added gene: TRDN was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRDN was set to Unknown |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR2 was set to Unknown |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | CASQ2 |
Zornitza Stark gene: CASQ2 was added gene: CASQ2 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASQ2 was set to Unknown |
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| 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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| 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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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | CALM1 |
Zornitza Stark gene: CALM1 was added gene: CALM1 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALM1 was set to Unknown |
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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.0 | Zornitza Stark Added panel Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||