| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrophic cardiomyopathy_HCM v0.195 | RIT1 | Bryony Thompson Marked gene: RIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.195 | RIT1 | Bryony Thompson Gene: rit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.195 | RIT1 | Bryony Thompson Classified gene: RIT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.195 | RIT1 | Bryony Thompson Gene: rit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.194 | RIT1 |
Bryony Thompson gene: RIT1 was added gene: RIT1 was added to Hypertrophic cardiomyopathy_HCM. Sources: ClinGen Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 39132495 Phenotypes for gene: RIT1 were set to Noonan syndrome MONDO:0018997 Mode of pathogenicity for gene: RIT1 was set to Other Review for gene: RIT1 was set to GREEN gene: RIT1 was marked as current diagnostic Added comment: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCM Sources: ClinGen |
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