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Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Classified gene: KCNE1 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Gene: kcne1 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Classified gene: KCNE1 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Classified gene: ANK2 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Gene: ank2 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Classified gene: ANK2 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Gene: ank2 has been classified as Amber List (Moderate Evidence).
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Short QT syndrome 3, OMIM:609622, Short QT syndrome type 3, MONDO:0012314, Atrial fibrillation, familial, 9, OMIM:613980, Atrial fibrillation, familial, 9, MONDO:0013513, Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.17 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.16 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from catecholaminergic polymorphic ventricular tachycardia to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.15 TECRL Ivone Leong Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Catecholaminergic polymorphic VT v2.14 TRDN Ivone Leong Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 2 (600996)
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Arrhythmogenic right ventricular dysplasia 2 (600996); Catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Catecholaminergic polymorphic VT v2.12 CASQ2 Ivone Leong Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Ventricular tachycardia, catecholaminergic polymorphic, 2 to Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 16,618782
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Phenotypes for gene: CALM3 were changed from ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782 to ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.9 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) to Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Catecholaminergic polymorphic VT v2.7 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from catecholaminergic polymorphic ventricular tachycardia; Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Catecholaminergic polymorphic VT v2.6 Ivone Leong Panel version has been signed off
Catecholaminergic polymorphic VT v2.4 CALM3 Eleanor Williams Phenotypes for gene: CALM3 were changed from to ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782
Catecholaminergic polymorphic VT v2.3 Sarah Leigh Panel version has been signed off
Catecholaminergic polymorphic VT v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Catecholaminergic polymorphic VT v2.0 Ivone Leong promoted panel to version 2.0
Catecholaminergic polymorphic VT v1.30 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Catecholaminergic polymorphic VT v1.29 CALM3 Ivone Leong Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.28 CALM3 Ivone Leong Source Expert Review Green was added to CALM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.27 CALM3 Kate Thomson reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Catecholaminergic polymorphic VT v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Catecholaminergic polymorphic VT v1.25 CALM3 Ivone Leong reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 TECRL Ivone Leong reviewed gene: TECRL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 TRDN Ivone Leong reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 RYR2 Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Catecholaminergic polymorphic VT v1.25 CASQ2 Ivone Leong reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 CALM2 Ivone Leong reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 CALM1 Ivone Leong reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Catecholaminergic polymorphic VT v1.25 CALM3 Ellen McDonagh Publications for gene: CALM3 were set to
Catecholaminergic polymorphic VT v1.24 TECRL Ivone Leong Phenotypes for gene: TECRL were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 3 614021
Catecholaminergic polymorphic VT v1.23 TECRL Ivone Leong Publications for gene: TECRL were set to
Catecholaminergic polymorphic VT v1.22 RYR2 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Catecholaminergic polymorphic VT v1.22 RYR2 Ivone Leong Mode of inheritance for gene: RYR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.21 TECRL James Eden reviewed gene: TECRL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27861123; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.21 CALM2 Ivone Leong Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, 616249
Catecholaminergic polymorphic VT v1.20 CALM2 Matthew Edwards reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24917665; Phenotypes: Long QT syndrome 15; Mode of inheritance: None; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.20 RYR2 Ivone Leong Publications for gene: RYR2 were set to 27761157; 19121813
Catecholaminergic polymorphic VT v1.19 CASQ2 Ivone Leong Publications for gene: CASQ2 were set to 27761157; 19121813
Catecholaminergic polymorphic VT v1.18 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic VT v1.17 Ivone Leong List of related panels changed from Catecholaminergic Polymorphic Ventricular Tachycardia to Catecholaminergic Polymorphic Ventricular Tachycardia; R129
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Classified gene: TECRL as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Added comment: Comment on list classification: Gene submitted by the South West GLH. Promoted from Red to Amber for discussion with the NHSE GMS cardio specialist grou.
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Gene: tecrl has been classified as Amber List (Moderate Evidence).
Catecholaminergic polymorphic VT v1.13 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Catecholaminergic polymorphic VT v1.13 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Catecholaminergic polymorphic VT v1.13 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Catecholaminergic polymorphic VT v1.13 TRDN Rebecca Whittington commented on gene: TRDN: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM 615441)
Catecholaminergic polymorphic VT v1.13 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Catecholaminergic polymorphic VT v1.13 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (OMIM 611938)
Catecholaminergic polymorphic VT v1.13 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Catecholaminergic polymorphic VT v1.13 TECRL Rebecca Whittington commented on gene: TECRL: Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021)
Catecholaminergic polymorphic VT v1.13 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Catecholaminergic polymorphic VT v1.13 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVT
Catecholaminergic polymorphic VT v1.12 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: No evidence for this gene assoc with CPVT. PMID:27761157
Catecholaminergic polymorphic VT v1.12 KCNE1 Rebecca Whittington commented on gene: KCNE1: No evidence for this gene assoc with CPVT.
Catecholaminergic polymorphic VT v1.12 ANK2 Rebecca Whittington commented on gene: ANK2: No evidence for this gene assoc with CPVT. PMID:27761157.
Catecholaminergic polymorphic VT v1.12 TRDN Rebecca Whittington commented on gene: TRDN: Literature evidence including functional / family testing. PMID:22422768. PMID: 25922419
Catecholaminergic polymorphic VT v1.12 RYR2 Rebecca Whittington commented on gene: RYR2: Lots of literature evidence for this gene / established gene. PMID: 26018045. PMID:26114861. PMID:19926015.
Catecholaminergic polymorphic VT v1.12 CASQ2 Rebecca Whittington commented on gene: CASQ2: Literature evidence (inc cosegregation, functional). PMID:27157848. PMID:29178653. PMID: 21618644
Catecholaminergic polymorphic VT v1.12 CALM1 Rebecca Whittington commented on gene: CALM1: Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. PMID: 23388215
Catecholaminergic polymorphic VT v1.12 TECRL Rebecca Whittington commented on gene: TECRL: Only one entry linked to one paper for cardiac arrhythmia but showed homozygosity for splice mutation that segregated in the family. Possible overlapping phenotype with LQTS. 3 different families described in the paper (2016): PMID:27861123
Catecholaminergic polymorphic VT v1.12 CALM3 Rebecca Whittington commented on gene: CALM3: Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456
Catecholaminergic polymorphic VT v1.12 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.
Catecholaminergic polymorphic VT v1.11 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TRDN Rebecca Whittington reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TECRL Rebecca Whittington reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.11 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Catecholaminergic polymorphic VT v1.11 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic polymorphic VT v1.10 TRDN Matthew Edwards reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, ARVC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 CASQ2 Matthew Edwards reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16908766; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, LQTS 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 CALM3 Ellen McDonagh Classified gene: CALM3 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v1.10 CALM3 Ellen McDonagh Added comment: Comment on list classification: This gene-disease was discussed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, and it was confirmed that this should be promoted from Red to Amber.
Catecholaminergic polymorphic VT v1.10 CALM3 Ellen McDonagh Gene: calm3 has been classified as Amber List (Moderate Evidence).
Catecholaminergic polymorphic VT v1.9 TECRL Ellen McDonagh gene: TECRL was added
gene: TECRL was added to Catecholaminergic polymorphic VT. Sources: South West GLH
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.9 KCNJ2 Ellen McDonagh Source South West GLH was added to KCNJ2.
Catecholaminergic polymorphic VT v1.9 KCNE1 Ellen McDonagh Source South West GLH was added to KCNE1.
Mode of inheritance for gene KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.9 CALM3 Ellen McDonagh Source South West GLH was added to CALM3.
Mode of inheritance for gene CALM3 was changed from to Unknown
Catecholaminergic polymorphic VT v1.9 ANK2 Ellen McDonagh Source South West GLH was added to ANK2.
Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic polymorphic VT v1.9 TRDN Ellen McDonagh Source South West GLH was added to TRDN.
Catecholaminergic polymorphic VT v1.9 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.9 CASQ2 Ellen McDonagh Source South West GLH was added to CASQ2.
Catecholaminergic polymorphic VT v1.9 CALM2 Ellen McDonagh Source South West GLH was added to CALM2.
Mode of inheritance for gene CALM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic polymorphic VT v1.9 CALM1 Ellen McDonagh Source South West GLH was added to CALM1.
Mode of inheritance for gene CALM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic polymorphic VT v1.8 CALM3 Ellen McDonagh edited their review of gene: CALM3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.8 TRDN Ellen McDonagh edited their review of gene: TRDN: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.8 RYR2 Ellen McDonagh edited their review of gene: RYR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.8 CASQ2 Ellen McDonagh edited their review of gene: CASQ2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.8 CALM2 Ellen McDonagh edited their review of gene: CALM2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.8 CALM1 Ellen McDonagh edited their review of gene: CALM1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Catecholaminergic polymorphic VT v1.7 CALM3 Ellen McDonagh Source London South GLH was added to CALM3.
Catecholaminergic polymorphic VT v1.7 TRDN Ellen McDonagh Source London South GLH was added to TRDN.
Catecholaminergic polymorphic VT v1.7 RYR2 Ellen McDonagh Source London South GLH was added to RYR2.
Catecholaminergic polymorphic VT v1.7 CASQ2 Ellen McDonagh Source London South GLH was added to CASQ2.
Catecholaminergic polymorphic VT v1.7 CALM2 Ellen McDonagh Source London South GLH was added to CALM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.7 CALM1 Ellen McDonagh Source London South GLH was added to CALM1.
Catecholaminergic polymorphic VT v1.6 RYR2 James Eden edited their review of gene: RYR2: Changed publications: 19121813, 27761157, 16391617
Catecholaminergic polymorphic VT v1.6 TRDN James Eden reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 26200674; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 RYR2 James Eden reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 KCNJ2 James Eden reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: 27761157; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 CASQ2 James Eden reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 CALM1 James Eden reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Long QT syndrome 14 (616247), Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.5 TRDN Ellen McDonagh Source North West GLH was added to TRDN.
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441) for gene: TRDN
Publications for gene TRDN were changed from to 26200674
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 RYR2 Ellen McDonagh Source North West GLH was added to RYR2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2
Publications for gene RYR2 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 KCNJ2 Ellen McDonagh Source North West GLH was added to KCNJ2.
Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2
Publications for gene KCNJ2 were changed from to 27761157
Catecholaminergic polymorphic VT v1.5 CASQ2 Ellen McDonagh Source North West GLH was added to CASQ2.
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) for gene: CASQ2
Publications for gene CASQ2 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 CALM1 Ellen McDonagh Source North West GLH was added to CALM1.
Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1
Publications for gene CALM1 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.3 Ellen McDonagh Panel name changed from Catecholaminergic Polymorphic Ventricular Tachycardia to Catecholaminergic polymorphic VT
List of related panels changed from to Catecholaminergic Polymorphic Ventricular Tachycardia
Panel types changed to Rare Disease 100K; GMS Rare Disease