NPM1 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Dyskeratosis congenita |
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Inheritance | Autosomal dominant |
Prevalence | 1:1 million |
Rapid or full curation? | Rapid Full |
Not in ClinGen; In Scope for CAYA GCEP GenCC- AD dyskeratosis congenita (Supportive- Orphanet) OMIM- Leukemia, acute myeloid, somatic | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID 32581362- Variant reported in one individual with [Stem cell/Myeloid Disorder]: c.860_863dupTCTG p.(Trp288Cysfs*12). (1 pt) PMID 31570891- Variants reported in two individuals with DC: c.532G>C p.D178H (0.5pts), c.538_540del p.D180del (no points; gnomAD v4 grpmax AF=0.05%); Mice with altered NMP1 showed clinical features of DC (2 pts) (2.5 pts) 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 | Limited- Most information available seems to be about somatic variants Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative
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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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