| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 v0.7 | 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 |
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