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Mendeliome v1.2647 | MYPN | Sangavi Sivagnanasundram edited their review of gene: MYPN: Changed publications: 28017374, 28220527, 31133047, 18006477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2647 | MYPN |
Sangavi Sivagnanasundram changed review comment from: Comment for gene-disease association AR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552 AD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553 AD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554; to: Comment for gene-disease association (addition of publications) AR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552 (PMID for myopathy: 28017374, 28220527, 31133047) AD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554 (PMID for DCM: 18006477) AD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553 |
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Mendeliome v1.2647 | MYPN |
Sangavi Sivagnanasundram changed review comment from: Comment for gene-disease association AR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552 AD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553 AD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554; to: Comment for gene-disease association AR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552 AD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553 AD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554 |
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Mendeliome v1.2647 | MYPN | Sangavi Sivagnanasundram reviewed gene: MYPN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYPN-related myopathy MONDO:0015023, dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10715 | MYPN | Zornitza Stark Marked gene: MYPN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10715 | MYPN | Zornitza Stark Gene: mypn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10715 | MYPN | Zornitza Stark Phenotypes for gene: MYPN were changed from to Nemaline myopathy 11, autosomal recessive MIM#617336 AR; cardiomyopathy MIM#615248 AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10714 | MYPN | Zornitza Stark Mode of inheritance for gene: MYPN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10640 | MYPN | Ain Roesley reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | MYPN |
Zornitza Stark gene: MYPN was added gene: MYPN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYPN was set to Unknown |