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Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Classified gene: CACNB4 as Red List (low evidence)
Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Added comment: Comment on list classification: Downgraded from Amber to Red. This gene was not submitted as part of the GMS on the Myotonia congenita panel, it is also noted by reviewer Fowzan Alkuraya that they do not think the evidence linking this gene to the intended phenotype for this panel i.e. muscle channelopathy is compelling
Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Gene: cacnb4 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies CACNB4 Fowzan ALKURAYA reviewed CACNB4
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as amber
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as red
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci commented on CACNB4
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci reviewed CACNB4