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9 actions
Intellectual disability v3.421 SCN4A Arina Puzriakova Source Expert Review Red was added to SCN4A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.254 SCN4A Arina Puzriakova commented on gene: SCN4A
Intellectual disability v3.0 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive 608390, Paramyotonia congenita 168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.0 SCN4A Andrea Haworth commented on gene: SCN4A
Intellectual disability SCN4A BRIDGE consortium edited their review of SCN4A
Intellectual disability SCN4A BRIDGE consortium edited their review of SCN4A
Intellectual disability SCN4A Louise Daugherty classified SCN4A as amber
Intellectual disability SCN4A Louise Daugherty commented on SCN4A
Intellectual disability SCN4A BRIDGE consortium reviewed SCN4A