Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Classified gene: CACNA1A as Green List (high evidence)
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Since the original review in 2017 there has been more evidence to support variants of this gene resulting in a phenotype suitable for inclusion
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Gene: cacna1a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.14 CACNA1A Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviwer on Myotonia congenita panel for GMS, new publication in particular new publication March 2018 https://www.ncbi.nlm.nih.gov/pubmed/?term=29442233 gives evidence to support variants of this gene resulting in a phenotype suitable for inclusion, there is also reference to a mouse model here : https://www.ncbi.nlm.nih.gov/pubmed/?term=28688851
Skeletal Muscle Channelopathies v1.14 CACNA1A Louise Daugherty Publications for gene: CACNA1A were set to
Skeletal Muscle Channelopathies v1.13 CACNA1A Louise Daugherty Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal Muscle Channelopathies CACNA1A Fowzan ALKURAYA reviewed CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci marked CACNA1A as ready
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci reviewed CACNA1A