Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Early onset dystonia v1.76 BCAP31 Eleanor Williams Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Early onset dystonia v1.75 BCAP31 Eleanor Williams Publications for gene: BCAP31 were set to
Early onset dystonia v1.74 BCAP31 Eleanor Williams Mode of inheritance for gene: BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset dystonia v1.73 BCAP31 Eleanor Williams Classified gene: BCAP31 as Green List (high evidence)
Early onset dystonia v1.73 BCAP31 Eleanor Williams Added comment: Comment on list classification: More than 3 cases with variants in BCAP31 and a dystonia phenotype
Early onset dystonia v1.73 BCAP31 Eleanor Williams Gene: bcap31 has been classified as Green List (High Evidence).
Early onset dystonia v1.72 BCAP31 Eleanor Williams commented on gene: BCAP31
Early onset dystonia v1.68 BCAP31 Chris Buxton reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: None; Publications: 24011989; Phenotypes: Intellectual disability, dystonia, sensorineural deafness; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females