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| Genomic newborn screening: ICoNS v0.19 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.19 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.19 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.18 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.17 | MYH7 | Zornitza Stark Classified gene: MYH7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.17 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | MYH7 |
François BOEMER edited their review of gene: MYH7: Added comment: The natural history of MYH7-related cardiomyopathies shows considerable variation in age of onset. In the 2022 paper by de Frutos et al., only 9 of 115 reported cases developed symptoms before 10 years of age. Moreover, substantial phenotypic heterogeneity can occur among affected members of the same family. Consequently, within the BabyDetect project, the reporting criteria for MYH7 variants are restricted to cases in which two variants are identified—either in a homozygous state or as possible compound heterozygotes.; Set current diagnostic: yes |
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| Genomic newborn screening: ICoNS v0.16 | MYH7 |
François BOEMER gene: MYH7 was added gene: MYH7 was added to Genomic newborn screening: ICoNS. Sources: Expert Review Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH7 were set to doi.org/10.1016/j.jacc.2022.07.023; doi.org/10.1038/gim.2017.218 Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Congenital myopathy 7A, myosin storage, autosomal dominant; Congenital myopathy 7B, myosin storage, autosomal recessive; Laing distal myopathy; Left ventricular noncompaction 5 Penetrance for gene: MYH7 were set to Complete Mode of pathogenicity for gene: MYH7 was set to Other Review for gene: MYH7 was set to GREEN Added comment: Sources: Expert Review |
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