Long QT syndrome 14
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LQT14 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
616247
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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:
| LQT14 is a sub-type of familial long QT syndrome. For symptom annotation please refer to familial long QT syndrome. |
Symptom Information:
Associated genes:
| CALM1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| CALM1 | rs199744595 | pathogenic | RCV000162063.2 |
| CALM1 | rs730882252 | pathogenic | RCV000162062.2 |
| CALM1 | rs730882253 | pathogenic | RCV000162064.2 |