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| Additional findings_Paediatric v0.266 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.265 | MYH7 | Zornitza Stark edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.265 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.68 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.68 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.68 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.67 | MYH7 | Zornitza Stark Classified gene: MYH7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.67 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.47 | MYH7 | Lilian Downie reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy and cardiomyopathy MIM#160760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Congenital fiber type disproportion for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark Source BabySeq Category C gene was added to MYH7. Source Expert Review Red was added to MYH7. Added phenotypes Scapuloperoneal syndrome, myopathic type for gene: MYH7 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Cardiomyopathy, dilated for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark Source BabySeq Category B gene was added to MYH7. Source Expert Review Amber was added to MYH7. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH7 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Myopathy, myosin storage for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH7 were set to Laing distal myopathy |
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