Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Skeletal Muscle Channelopathies v1.34 CACNA1S Ivone Leong Publications for gene: CACNA1S were set to 15534250; 18835861
Skeletal Muscle Channelopathies v1.33 CACNA1S Ivone Leong Added comment: Comment on mode of inheritance: Changing MOI from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" based on the review by Eleanor Williams for the same gene on the "Skeletal muscle channelopathy" panel:

"PMID: 28012042 - Shartner et al 2017 - report 11 individuals with congenital myopathy from 7 unrelated families (Caucasian, Argentinean, or Vietnamese) and variants in CACNA1S identified through exome sequencing. The s from origin were included in this study. There were 3 sporadic cases (2 compound het, 1 het), 2 families with dominant inheritance, and 2 families with recessive inheritance . 10 different variants were identified.
Eleanor Williams (Genomics England Curator), 17 Mar 2021"
Skeletal Muscle Channelopathies v1.33 CACNA1S Ivone Leong Mode of inheritance for gene: CACNA1S was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies CACNA1S Fowzan ALKURAYA reviewed CACNA1S
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci marked CACNA1S as ready
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci classified CACNA1S as green
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci commented on CACNA1S
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci reviewed CACNA1S