NOTCH2 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Alagille syndrome related to NOTCH2 |
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Inheritance | Autosomal recessive |
Prevalence |
Source: The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. Most cases are caused by pathogenic variants in the JAG1 gene with NOTCH2 variants being less common. |
Rapid or full curation? | Rapid Full |
GenCC: Alagille syndrome due to a NOTCH2 point mutation- Strong by Invitae Alagille syndrome- Moderate by Illumina | |
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 MOD is unclear. Both pLoF and missense variants have been reported. ClinGen curated this gene with no evidence to support HI in 2014 https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7882 |
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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