MYL1 was reported in relation to autosomal recessive congenital myopathy in 2018 (Ravenscroft et al., PMID: 30215711). At least 2 unique variants (splicing, missense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID: 30215711). This gene-disease association is supported by a zebrafish model (PMID: 30215711). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
This gene-disease pair was originally approved by the ClinGen Congenital Myopathies Working Group on 4/13/20 (SOP Version 7). It was reevaluated on 02/21/2025. As a result of this reevaluation no new evidence was identified and the classification remained at Limited.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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