Childhood onset dystonia, chorea or related movement disorder
Gene: KCNMA1
Suggested by Huw and RaquelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Publications for gene: KCNMA1 were set to
Phenotypes for gene: KCNMA1 were changed from Cerebellar atrophy, developmental delay, and seizures, 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886
Phenotypes for gene: KCNMA1 were changed from Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy to Cerebellar atrophy, developmental delay, and seizures, 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Mode of inheritance for gene: KCNMA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: KCNMA1 was added gene: KCNMA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCNMA1 was set to