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Long QT Syndrome v0.61 CAV3 Daniel Flanagan reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 17060380, 17275750, 30588629; Phenotypes: Long QT syndrome 9 (MIM#611818); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.61 Zornitza Stark HPO terms changed from to Prolonged QT interval, HP:0001657
List of related panels changed from to Prolonged QT interval; HP:0001657
Long QT Syndrome v0.60 ANK2 Zornitza Stark Mode of inheritance for gene: ANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.59 KCNE2 Zornitza Stark Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.57 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from long QT syndrome; acquired LQTS to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695; Acquired LQTS
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Added comment: Comment when marking as ready: Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955
Long QT Syndrome v0.55 SNTA1 Zornitza Stark Publications for gene: SNTA1 were set to
Long QT Syndrome v0.54 SNTA1 Zornitza Stark Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.53 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Long QT Syndrome v0.53 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.52 SNTA1 Zornitza Stark Tag disputed tag was added to gene: SNTA1.
Long QT Syndrome v0.52 TRDN Zornitza Stark Marked gene: TRDN as ready
Long QT Syndrome v0.52 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Long QT Syndrome v0.52 TRDN Zornitza Stark Publications for gene: TRDN were set to long QT syndrome
Long QT Syndrome v0.51 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from PMID: 31983240; 25922419 to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Long QT Syndrome v0.50 TRDN Zornitza Stark Classified gene: TRDN as Green List (high evidence)
Long QT Syndrome v0.50 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Long QT Syndrome v0.49 CALM2 Zornitza Stark Marked gene: CALM2 as ready
Long QT Syndrome v0.49 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.49 CALM2 Zornitza Stark Phenotypes for gene: CALM2 were changed from long QT syndrome to Long QT syndrome 15, MIM# 616249
Long QT Syndrome v0.48 CALM2 Zornitza Stark Classified gene: CALM2 as Green List (high evidence)
Long QT Syndrome v0.48 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.46 CALM1 Zornitza Stark Marked gene: CALM1 as ready
Long QT Syndrome v0.46 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.46 CALM1 Zornitza Stark Phenotypes for gene: CALM1 were changed from long QT syndrome to Long QT syndrome 14, MIM# 616247
Long QT Syndrome v0.45 CALM1 Zornitza Stark Classified gene: CALM1 as Green List (high evidence)
Long QT Syndrome v0.45 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.44 SCN4B Zornitza Stark Marked gene: SCN4B as ready
Long QT Syndrome v0.44 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Long QT Syndrome v0.44 SCN4B Zornitza Stark Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM# 611819
Long QT Syndrome v0.43 SCN4B Zornitza Stark Publications for gene: SCN4B were set to
Long QT Syndrome v0.42 SCN4B Zornitza Stark Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.41 SCN4B Zornitza Stark Classified gene: SCN4B as Red List (low evidence)
Long QT Syndrome v0.41 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Long QT Syndrome v0.40 SCN4B Zornitza Stark Tag disputed tag was added to gene: SCN4B.
Long QT Syndrome v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Phenotypes for gene: KCNJ5 were changed from to Long QT syndrome 13, MIM# 613485
Long QT Syndrome v0.38 KCNJ5 Zornitza Stark Publications for gene: KCNJ5 were set to
Long QT Syndrome v0.37 KCNJ5 Zornitza Stark Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Tag disputed tag was added to gene: KCNJ5.
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Classified gene: KCNJ5 as Red List (low evidence)
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to long QT syndrome; Andersen-Tawil syndrome
Long QT Syndrome v0.34 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Long QT Syndrome v0.33 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to long QT syndrome
Long QT Syndrome v0.31 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to
Long QT Syndrome v0.30 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Marked gene: KCNE2 as ready
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Phenotypes for gene: KCNE2 were changed from to Long QT syndrome
Long QT Syndrome v0.28 KCNE2 Zornitza Stark Publications for gene: KCNE2 were set to
Long QT Syndrome v0.27 KCNE2 Zornitza Stark Classified gene: KCNE2 as Amber List (moderate evidence)
Long QT Syndrome v0.27 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Publications for gene: KCNE1 were set to
Long QT Syndrome v0.25 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to long QT syndrome; acquired LQTS
Long QT Syndrome v0.24 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT Syndrome v0.23 KCNE1 Zornitza Stark Classified gene: KCNE1 as Amber List (moderate evidence)
Long QT Syndrome v0.23 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.22 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Long QT Syndrome v0.22 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.22 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from to Long QT syndrome 9, MIM# 611818
Long QT Syndrome v0.21 CAV3 Zornitza Stark Publications for gene: CAV3 were set to
Long QT Syndrome v0.20 CAV3 Zornitza Stark Mode of pathogenicity for gene: CAV3 was changed from to None
Long QT Syndrome v0.19 CAV3 Zornitza Stark Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.18 CAV3 Zornitza Stark Classified gene: CAV3 as Amber List (moderate evidence)
Long QT Syndrome v0.18 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.17 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 9, MIM# 611818; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005 to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Long QT Syndrome v0.16 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Long QT Syndrome v0.15 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Long QT Syndrome v0.14 CACNA1C Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.13 ANK2 Zornitza Stark edited their review of gene: ANK2: Changed phenotypes: Long QT syndrome 4, MIM# 600919
Long QT Syndrome v0.13 ANK2 Zornitza Stark Tag disputed tag was added to gene: ANK2.
Long QT Syndrome v0.13 ANK2 Zornitza Stark Marked gene: ANK2 as ready
Long QT Syndrome v0.13 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.13 ANK2 Zornitza Stark Phenotypes for gene: ANK2 were changed from to Long QT syndrome 4, MIM# 600919
Long QT Syndrome v0.12 ANK2 Zornitza Stark Publications for gene: ANK2 were set to
Long QT Syndrome v0.11 ANK2 Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
Long QT Syndrome v0.11 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.10 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Tag disputed tag was added to gene: AKAP9.
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Marked gene: AKAP9 as ready
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Phenotypes for gene: AKAP9 were changed from to long QT syndrome
Long QT Syndrome v0.9 AKAP9 Zornitza Stark Publications for gene: AKAP9 were set to
Long QT Syndrome v0.8 AKAP9 Zornitza Stark Classified gene: AKAP9 as Red List (low evidence)
Long QT Syndrome v0.8 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.7 TRDN Ivan Macciocca gene: TRDN was added
gene: TRDN was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to long QT syndrome
Phenotypes for gene: TRDN were set to PMID: 31983240; 25922419
Review for gene: TRDN was set to GREEN
gene: TRDN was marked as current diagnostic
Added comment: definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
Evidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical
torsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate
within the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association.
Sources: Expert list
Long QT Syndrome v0.7 SNTA1 Ivan Macciocca reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 SCN5A Ivan Macciocca reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Brugada syndrome, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 SCN4B Ivan Macciocca reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 KCNQ1 Ivan Macciocca reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNJ5 Ivan Macciocca reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 KCNJ2 Ivan Macciocca reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Andersen-Tawil syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNE2 Ivan Macciocca edited their review of gene: KCNE2: Set current diagnostic: yes
Long QT Syndrome v0.7 KCNH2 Ivan Macciocca reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNE2 Ivan Macciocca reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 28794082; Phenotypes: ; Mode of inheritance: None
Long QT Syndrome v0.7 KCNE1 Ivan Macciocca reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: long QT syndrome, acquired LQTS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT Syndrome v0.7 CAV3 Ivan Macciocca reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31983240, 17060380; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 CALM2 Ivan Macciocca gene: CALM2 was added
gene: CALM2 was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM2 were set to PMID: 31983240
Phenotypes for gene: CALM2 were set to long QT syndrome
Penetrance for gene: CALM2 were set to unknown
Review for gene: CALM2 was set to GREEN
gene: CALM2 was marked as current diagnostic
Added comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert list
Long QT Syndrome v0.7 CALM1 Ivan Macciocca gene: CALM1 was added
gene: CALM1 was added to Long QT Syndrome. Sources: Expert Review
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM1 were set to long QT syndrome
Penetrance for gene: CALM1 were set to unknown
Review for gene: CALM1 was set to GREEN
gene: CALM1 was marked as current diagnostic
Added comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert Review
Long QT Syndrome v0.7 CALM3 Ivan Macciocca reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 CACNA1C Ivan Macciocca reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Timothy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 ANK2 Ivan Macciocca reviewed gene: ANK2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: ; Mode of inheritance: None
Long QT Syndrome v0.7 AKAP9 Ivan Macciocca reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: None
Long QT Syndrome v0.7 CALM3 Zornitza Stark Marked gene: CALM3 as ready
Long QT Syndrome v0.7 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Long QT Syndrome v0.7 CALM3 Zornitza Stark Classified gene: CALM3 as Green List (high evidence)
Long QT Syndrome v0.7 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Long QT Syndrome v0.6 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM3 were set to 25460178; 31454269
Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782
Review for gene: CALM3 was set to GREEN
Added comment: Sources: Expert list
Long QT Syndrome v0.5 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Long QT Syndrome v0.5 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Long QT Syndrome v0.5 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Long QT syndrome 3 (MIM#603830)
Long QT Syndrome v0.5 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29798782
Long QT Syndrome v0.4 SCN5A Zornitza Stark Publications for gene: SCN5A were set to
Long QT Syndrome v0.4 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.3 SCN5A Crystle Lee reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29798782; Phenotypes: Long QT syndrome 3 (MIM#603830); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark changed review comment from: Both mono allelic and biallelic variants cause disease, no evidence for imprinting.; to: Both mono allelic and biallelic variants cause disease; excess of maternally inherited variants observed in LongQT syndrome likely linked to imprinting at this locus.
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Atrial fibrillation, familial, 3 607554; Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, 192500; Short QT syndrome 2 609621
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 3 607554, Jervell and Lange-Nielsen syndrome 220400, Long QT syndrome 1, 192500, Short QT syndrome 2 609621; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Michelle Torres reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301308; Phenotypes: 1. Atrial fibrillation, familial, 3 607554 AD, 2. Jervell and Lange-Nielsen syndrome 220400 AR, 3. Long QT syndrome 1 192500 AD, 4. Short QT syndrome 2 609621 AD, 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT Syndrome v0.1 Zornitza Stark Panel name changed from Long QT syndrome_VCGS to Long QT Syndrome
Panel types changed to Victorian Clinical Genetics Services
Long QT Syndrome v0.0 SNTA1 Zornitza Stark gene: SNTA1 was added
gene: SNTA1 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNTA1 was set to Unknown
Long QT Syndrome v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN5A was set to Unknown
Long QT Syndrome v0.0 SCN4B Zornitza Stark gene: SCN4B was added
gene: SCN4B was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN4B was set to Unknown
Long QT Syndrome v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNQ1 was set to Unknown
Long QT Syndrome v0.0 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ5 was set to Unknown
Long QT Syndrome v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ2 was set to Unknown
Long QT Syndrome v0.0 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNH2 was set to Unknown
Long QT Syndrome v0.0 KCNE2 Zornitza Stark gene: KCNE2 was added
gene: KCNE2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNE2 was set to Unknown
Long QT Syndrome v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNE1 was set to Unknown
Long QT Syndrome v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAV3 was set to Unknown
Long QT Syndrome v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1C was set to Unknown
Long QT Syndrome v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANK2 was set to Unknown
Long QT Syndrome v0.0 AKAP9 Zornitza Stark gene: AKAP9 was added
gene: AKAP9 was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKAP9 was set to Unknown
Long QT Syndrome v0.0 Zornitza Stark Added panel Long QT syndrome_VCGS