Dystonia - childhood onsetGene: BCAP31
Comment on list classification: More than 3 cases with variants in BCAP31 and a dystonia phenotype
Created: 20 Dec 2018, 10:45 a.m.
Updated to green when making the merge panel as further evidence was provided in a review on the "Early onset dystonia" panel (which is v 1.76 after making the gene green) (https://panelapp.genomicsengland.co.uk/panels/192/gene/BCAP31/).
Created: 20 Dec 2018, 10:43 a.m.
Eleanor Williams: Updated to green when making t
Gene: bcap31 has been classified as Green List (High Evidence).
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
Publications for gene: BCAP31 were set to
Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: BCAP31 was added gene: BCAP31 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: BCAP31 was set to Unknown Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475