| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Sick sinus syndrome v1.4 | POPDC2 | Zornitza Stark Marked gene: POPDC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v1.4 | POPDC2 | Zornitza Stark Gene: popdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v1.4 | POPDC2 | Zornitza Stark Phenotypes for gene: POPDC2 were changed from Sinus node dysfunction to Sinoatrial node disorder, MONDO:0000469, POPDC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v1.3 | POPDC2 | Chirag Patel Classified gene: POPDC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v1.3 | POPDC2 | Chirag Patel Gene: popdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v1.2 | POPDC2 |
Chirag Patel gene: POPDC2 was added gene: POPDC2 was added to Sick sinus syndrome. Sources: Other Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POPDC2 were set to Sinus node dysfunction Review for gene: POPDC2 was set to GREEN gene: POPDC2 was marked as current diagnostic Added comment: ESHG 2023: 3 families with 7 affected with sinus node dysfunction (bradycardia) and AV block (2/7 HCM). 3 x HMZ variants found in POPDC2 (2 x missense, 1 x indel). Variants predicted to diminish cAMP binding of POPDC2, and shown to disrupt regulation of TREK1 channels (lowering of outward K+ current). POPDC2 is highly expressed in cardiac myocytes, sinoatrial node, and atrioventricular node. Knockdown in zebrafish leads to AV block, and knockout in mice leads to sinus node dysfunction. Sources: Other |
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| Sick sinus syndrome v1.1 |
Zornitza Stark HPO terms changed from to Sick sinus syndrome, HP:0011704 List of related panels changed from to Sick sinus syndrome; HP:0011704 |
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| Sick sinus syndrome v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.7 | HCN4 | Zornitza Stark Marked gene: HCN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.7 | HCN4 | Zornitza Stark Gene: hcn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.7 | HCN4 | Zornitza Stark Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome 2, MIM# 163800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.6 | HCN4 | Zornitza Stark Publications for gene: HCN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.5 | HCN4 | Zornitza Stark reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12750403, 15123648, 16407510, 17646576, 25145518; Phenotypes: Sick sinus syndrome 2, MIM# 163800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.5 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.5 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.5 | SCN5A | Zornitza Stark Phenotypes for gene: SCN5A were changed from to Sick sinus syndrome 1, MIM# 608567 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.4 | SCN5A | Zornitza Stark Publications for gene: SCN5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.3 | SCN5A | Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 14523039; Phenotypes: Sick sinus syndrome 1, MIM# 608567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.3 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.2 | GNB2 | Zornitza Stark Marked gene: GNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.2 | GNB2 | Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sick sinus syndrome v0.2 | GNB2 |
Zornitza Stark gene: GNB2 was added gene: GNB2 was added to Sick sinus syndrome. Sources: Expert list Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB2 were set to 28219978 Phenotypes for gene: GNB2 were set to Sick sinus syndrome 4, MIM# 619464 Review for gene: GNB2 was set to RED Added comment: Single large 3-generational family reported with a missense variant in this gene segregating with early and progressive sinus node and atrioventricular conduction dysfunction. Note recent reports of multiple individuals with syndromic ID and mono-allelic variants in this gene. Sources: Expert list |
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| Sick sinus syndrome v0.1 |
Zornitza Stark Panel name changed from Sick sinus syndrome_VCGS to Sick sinus syndrome Panel types changed to Victorian Clinical Genetics Services |
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| Sick sinus syndrome v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to Sick sinus syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN5A was set to BIALLELIC, autosomal or pseudoautosomal |
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| Sick sinus syndrome v0.0 | HCN4 |
Zornitza Stark gene: HCN4 was added gene: HCN4 was added to Sick sinus syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Sick sinus syndrome v0.0 | Zornitza Stark Added panel Sick sinus syndrome_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||