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| Congenital myopathy v3.73 | MYL2 | Arina Puzriakova Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | MYL2 | Eleanor Williams Tag Q2_21_rating was removed from gene: MYL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | MYL2 | Eleanor Williams reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.13 | MYL2 |
Eleanor Williams Source Expert Review Green was added to MYL2. Source NHS GMS was added to MYL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v2.33 | MYL2 | Ivone Leong Classified gene: MYL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.33 | MYL2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a variant in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.33 | MYL2 | Ivone Leong Gene: myl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.32 | MYL2 | Ivone Leong Tag Q2_21_rating tag was added to gene: MYL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.32 | MYL2 | Ivone Leong Added comment: Comment on publications: PMID:33731536 third case from Japan | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.32 | MYL2 | Ivone Leong Publications for gene: MYL2 were set to 23365102; 27378946; 33731536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.31 | MYL2 | Ivone Leong Publications for gene: MYL2 were set to 23365102; 27378946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.30 | MYL2 | Ivone Leong Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | MYL2 |
Zornitza Stark gene: MYL2 was added gene: MYL2 was added to Congenital myopathy. Sources: Expert list Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 23365102; 27378946 Phenotypes for gene: MYL2 were set to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy Review for gene: MYL2 was set to AMBER Added comment: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants. Sources: Expert list |
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