Long QT syndrome 15
General Information (adopted from Orphanet):
Synonyms, Signs: |
LQT15 |
Number of Symptoms | 0 |
OrphanetNr: | |
OMIM Id: |
616249
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant 1884444 [IBIS] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial long QT syndrome
-Rare cardiac disease -Rare genetic disease |
Comment:
LQT15 is a sub-type of familial long QT syndrome. For symptom annotation please refer to familial long QT syndrome. |
Symptom Information:
Associated genes:
CALM2; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
CALM2 | rs398124647 | pathogenic | RCV000162067.2 |
CALM2 | rs398124647 | pathogenic | RCV000162068.2 |
CALM2 | rs398124648 | pathogenic | RCV000162069.2 |
CALM2 | rs398124649 | pathogenic | RCV000162070.2 |
CALM2 | rs398124650 | pathogenic | RCV000162066.2 |
CALM2 | rs730882254 | pathogenic | RCV000162065.2 |