WebApr 3, 2024 · No haploinsufficiency sensitivity score was available on ClinGen for PUDP, VCX and PNPLA4 (last accessed: January 20th, 2024). The VCX proteins affect proper neuritogenesis [ 37 ]. Studies have shown that the absence of the VCX gene could contribute to an intellectual disability phenotype [ 37 ]. WebClinGen curation activities (Dosage Sensitivity and Gene-Disease Validity) (All Phenotype and Literature tracks) Display mode: Reset to defaults Display data as a density graph: …
PIK3C2A curation results
WebScoring experimental evidence. Description: In this video, ClinGen biocurators use the ClinGen framework to score pieces of experimental evidence, across different … WebDec 24, 2024 · ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants; HI score Help TS score Help Within gene All; COL2A1: Sufficient evidence for dosage pathogenicity: No evidence available: ... Variants resulting in a premature termination codon have been shown to result in haploinsufficiency (PMID: 17721977, … helping 1 year old walk
CTNND2 curation results for Dosage Sensitivity
WebPage Preferences allow you to save and restore individual settings to your preference. Currently this new feature allows you to manage table page number, table page size, … WebAbout ClinGen; ClinGen & ClinVar Partnership; ClinGen, CPIC and PharmGKB Partnership ; ... HI Score & TS Score ... Dosage Sensitivity WG 0 (No Evidence for Haploinsufficiency) 11/06/2015: 0 (No Evidence for Triplosensitivity) 11/06/2015: Clinical Actionability. Gene Disease Report Working Group Assertions Report & Date; RYR2 ... WebClinGen curation activities (Dosage Sensitivity and Gene-Disease Validity) (All Phenotype and Literature tracks) Display mode: Reset to defaults Display data as a density graph: ... ClinGen Haploinsufficiency: ClinGen Dosage Sensitivity Map - Haploinsufficiency Data format : hide. Configure: ClinGen Triplosensitivity helping 1 year old talk