In Progress NOTCH2NLC Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): CURATED FOR NORMAL RANGE ONLY FOR VALIDATION
Disease | Hereditary essential tremor type 6 and Neuronal intranuclear inclusion disease |
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Inheritance | Autosomal dominant |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
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Clinical Validity Scoring Notes and points | Variant/Case Evidence: Segregation Evidence: Case/Control Evidence: Experimental Evidence: Source: |
Clinical Validity Points Total |
Source: |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed |
Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative
Tandem repeat expansion of GGC in 5’UTR
Review:
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Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) |
Source: |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) |
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Severity |
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Clinical Features |
Sources: |
HPO Terms |
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Gene SOPs & Notes | LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant |
Curation Summary |
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Case ID, Curator name, Date, Jira ticket link |
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