CAPN1 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | CAPN1-related spastic paraplegia |
|---|---|
Inheritance | Autosomal recessive |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
No clingen curations, but 2 strong submissions in GenCC (Ambry and Invitae). No clinical validity scoring needed. | |
Clinical Validity Scoring Notes and points | N/A |
Clinical Validity Points Total | N/A Source: |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | STRONG
|
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function
See PMID: 33486633 table S2:
|
Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) |
|
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) | Adolescent to primarily adult onset
(PMID: 33486633) is a good review of the lit, see supp table 2. Earliest onset at 1 year from Travaglini 2017 PMID: 28566166, 3 variants found, but all VUS in ClinVar CAPN1: c.221GNA; p.(G74D), c.911CNT; p.(T304M), and c.1418GNT; p.(R473L). |
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 | AO 09.19.24 SDSM-2RN SDOR-HL PDO-37578 56752305182620 |