Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Mendeliome v2.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
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
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
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