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Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Skeletal Muscle Channelopathies v0.18 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.0 CLCN1 Bryony Thompson gene: CLCN1 was added
gene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive