| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Short QT syndrome v1.7 | SLC4A3 | Zornitza Stark Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | SLC4A3 | Zornitza Stark Classified gene: SLC4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | SLC4A3 | Zornitza Stark Gene: slc4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | SLC4A3 | Chern Lim reviewed gene: SLC4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36806574; Phenotypes: Short QT syndrome 7, MIM#620231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | SLC4A3 | Zornitza Stark Phenotypes for gene: SLC4A3 were changed from Short QT syndrome to Short QT syndrome 7, MIM#620231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | SLC4A3 | Zornitza Stark edited their review of gene: SLC4A3: Changed phenotypes: Short QT syndrome 7, MIM#620231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 |
Zornitza Stark HPO terms changed from to Shortened QT interval, HP:0012232 List of related panels changed from to Shortened QT interval; HP:0012232 |
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| Short QT syndrome v1.3 | KCNH2 | Zornitza Stark Marked gene: KCNH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | KCNH2 | Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | KCNH2 | Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Short QT syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.2 | KCNH2 | Zornitza Stark Publications for gene: KCNH2 were set to 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 1; bradycardia; atrial fibrillation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.13 | KCNJ2 | Zornitza Stark Marked gene: KCNJ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.13 | KCNJ2 | Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.13 | KCNJ2 | Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Short QT syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | KCNJ2 | Zornitza Stark Publications for gene: KCNJ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Classified gene: CACNA1C as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA1C | Zornitza Stark Tag disputed tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Marked gene: CACNA2D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Tag disputed tag was added to gene: CACNA2D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | SCN5A | Zornitza Stark Classified gene: SCN5A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | SCN5A | Zornitza Stark Tag disputed tag was added to gene: SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | CACNA2D1 | Zornitza Stark Classified gene: CACNA2D1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | CACNA2D1 | Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Marked gene: CACNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Classified gene: CACNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | CACNB2 | Zornitza Stark Tag disputed tag was added to gene: CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Marked gene: SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC22A5 | Zornitza Stark Tag disputed tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC4A3 | Zornitza Stark Marked gene: SLC4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC4A3 | Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC4A3 | Zornitza Stark Classified gene: SLC4A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC4A3 | Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.6 | SLC4A3 | Zornitza Stark reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.6 | KCNH2 | Zornitza Stark Publications for gene: KCNH2 were set to 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.6 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.6 | KCNJ2 | Zornitza Stark Mode of pathogenicity for gene: KCNJ2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.5 | KCNJ2 | Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNH2 | Zornitza Stark Publications for gene: KCNH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.3 | KCNH2 | Zornitza Stark Mode of pathogenicity for gene: KCNH2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.3 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | KCNH2 | Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | SCN5A |
Daniel Flanagan gene: SCN5A was added gene: SCN5A was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to PMID: 34557911 Phenotypes for gene: SCN5A were set to Short QT syndrome Review for gene: SCN5A was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with a rare SCN5A variant, however, the expert panel regarded this phenotype as being concordant with Brugada syndrome and not SQTS. Sources: Expert Review |
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| Short QT syndrome v0.1 | CACNA1C |
Daniel Flanagan gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 34557911 Phenotypes for gene: CACNA1C were set to Short QT syndrome Review for gene: CACNA1C was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. 5 probands with suggested SQTS phenotype, 3 had Brugada syndrome with a relatively short QT interval, 1 had HCM without a convincing SQTS phenotype, and the 5th had a reported de novo variant that was too frequent in gnomAD to be associated with SQTS. Sources: Expert Review |
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| Short QT syndrome v0.1 | CACNA2D1 |
Daniel Flanagan gene: CACNA2D1 was added gene: CACNA2D1 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA2D1 were set to PMID: 34557911 Phenotypes for gene: CACNA2D1 were set to Short QT syndrome Review for gene: CACNA2D1 was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with cardiac arrest and a short QT interval, variant did not segregate with SQTS and it was present at >1% in the Ashkenazi Jewish population. Sources: Expert Review |
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| Short QT syndrome v0.1 | CACNB2 |
Daniel Flanagan gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 34557911 Phenotypes for gene: CACNB2 were set to Short QT syndrome 1 Review for gene: CACNB2 was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case in which the expert panel concluded the phenotype was Brugada syndrome and not SQTS. Sources: Expert Review |
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| Short QT syndrome v0.1 | SLC22A5 |
Daniel Flanagan gene: SLC22A5 was added gene: SLC22A5 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to PMID: 34557911 Phenotypes for gene: SLC22A5 were set to Short QT syndrome Review for gene: SLC22A5 was set to RED Added comment: SLC22A5 association with short QT syndrome is disputed by the ClinGen expert panel / PMID: 34557911. Variants in SLC22A5 cause AR primary systemic carnitine deficiency (PSCD). Short QC has been demonstrated in a carnitine-deficient mouse model as well as in patients with PSCD. However, the QT interval in these patients returns to normal with carnitine supplementation treatment, so true SQTS and SLC22A5 is disputed. Sources: Expert Review |
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| Short QT syndrome v0.1 | SLC4A3 |
Daniel Flanagan gene: SLC4A3 was added gene: SLC4A3 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911 Phenotypes for gene: SLC4A3 were set to Short QT syndrome Review for gene: SLC4A3 was set to GREEN Added comment: Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). A single missense variant (absent gnomAD) identified in two SQTS families. In family 1, it segregated with SQTS (QTc<370ms) in 23 carriers, and 19 non-carriers had a QTc>370ms. In family 2, it segregated in 4 individuals. Experimental evidence from in vitro and zebrafish models suggests reduced membrane localization of the mutated protein leads to intracellular alkalinization and shortening of the cardiomyocyte action potential duration. ClinGen expert panel was divided between strong (4 votes) and moderate (5 votes). Sources: Expert Review |
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| Short QT syndrome v0.1 | KCNJ2 | Daniel Flanagan reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | KCNQ1 |
Daniel Flanagan changed review comment from: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant.; to: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant. Gain of function mechanism reported. |
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| Short QT syndrome v0.1 | KCNQ1 | Daniel Flanagan reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1, bradycardia, atrial fibrillation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | KCNH2 | Daniel Flanagan reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 |
Zornitza Stark Panel name changed from Short QT syndrome_VCGS to Short QT syndrome Panel types changed to Victorian Clinical Genetics Services |
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| Short QT syndrome v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNQ1 was set to Unknown |
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| Short QT syndrome v0.0 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown |
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| Short QT syndrome v0.0 | KCNH2 |
Zornitza Stark gene: KCNH2 was added gene: KCNH2 was added to Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNH2 was set to Unknown |
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| Short QT syndrome v0.0 | Zornitza Stark Added panel Short QT syndrome_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||