20 Dec 2018
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
20 Dec 2018
Early onset dystonia v1.75
BCAP31
Eleanor Williams Publications for gene: BCAP31 were set to
20 Dec 2018
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
20 Dec 2018
Early onset dystonia v1.73
BCAP31
Eleanor Williams Classified gene: BCAP31 as Green List (high evidence)
20 Dec 2018
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
20 Dec 2018
Early onset dystonia v1.73
BCAP31
Eleanor Williams Gene: bcap31 has been classified as Green List (High Evidence).
20 Dec 2018
Early onset dystonia v1.72
BCAP31
Eleanor Williams commented on gene: BCAP31
07 Dec 2018
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