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| Dilated Cardiomyopathy v1.18 | ACTN2 | Zornitza Stark Phenotypes for gene: ACTN2 were changed from Intrinsic cardiomyopathy to Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.17 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.17 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.16 | ACTN2 | Zornitza Stark reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Marked gene: ACTN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.43 | ACTN2 |
Paul De Fazio gene: ACTN2 was added gene: ACTN2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTN2 were set to 20474083; 25224718; 22253474; 14567970: Phenotypes for gene: ACTN2 were set to Intrinsic cardiomyopathy Review for gene: ACTN2 was set to AMBER gene: ACTN2 was marked as current diagnostic Added comment: Moderate evidence for "intrinsic cardiomyopathy" according to ClinGen. Associated with both HCM and DCM (same MIM# for both). According to ClinGen; 12 unique heterozygous variants have been identified in the context of diverse cardiac phenotypes (HCM, DCM, LVNC, ventricular fibrillation). In DCM: PMID 20474083: 3 "variants of likely clinical significance" and 1 VUS, cohort study PMID 14567970: missense variant in a child who died of DCM PMID 25224718: 2 families with the same missense variant (same haplotype) Rescues a DCM phenotype in Zebrafish (PMID: 22253474). Green on PanelApp GEL but did not achieve consensus Green rating. Amber on PanelApp Aus HCM panel. Sources: Literature |
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