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| Hypertrophic cardiomyopathy_HCM v0.157 | OBSCN | Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.156 | OBSCN | Zornitza Stark reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.111 | OBSCN | Paul De Fazio Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.111 | OBSCN |
Paul De Fazio commented on gene: OBSCN: Limited evidence by ClinGen working group. Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review). No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. |
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| Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Marked gene: OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Classified gene: OBSCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | OBSCN |
Paul De Fazio gene: OBSCN was added gene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914 Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy Review for gene: OBSCN was set to RED gene: OBSCN was marked as current diagnostic Added comment: Limited evidence by ClinGen working group. Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review). No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. Sources: Literature |
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