IN PROGRESS PABPN1 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): Just curating for normal range for now
Disease | Oculopharyngeal muscular dystrophy |
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Inheritance | Semidominant |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
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Clinical Validity Scoring Notes and points | Repeats 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 | Richard 2015 PMID 27858728 - describes a patient with GCN11 repeat with OPMD. RIchard 2015 PMID: 28011929 - Longer PABPN1 expansions are dx earlier than shorter expansion. Defines normal range as 10 or fewer repeats. Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other |
Tandem Repeat Expansions of GCN (polyalanine) in exon 1. (an SNV, Gly12Ala has also been reported).
Literature notes: GeneReviews PMID: - Pathogenic range is 11-18 repeats gnomAD - Normal ≤ 6, Pathogenic ≥ 7 STRchive - Normal max 10, pathogenic 12-17. Stripy - Normal 6, Pathogenic ≥ 7. AD disease is caused by repeats from 8-13 Depienne - Normal 6-10, path ≥12–17.
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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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