Early onset dystoniaGene: BCAP31
Comment on list classification: More than 3 cases with variants in BCAP31 and a dystonia phenotype
Created: 20 Dec 2018, 9:40 a.m.
This gene is associated with Deafness, dystonia, and cerebral hypomyelination in OMIM and DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS in Gene2Phenotype.
PMID:28332767 Albanyan et al (2017) - child with BCAP3‐associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. Exon sequencing identified a hemizygous likely pathogenic truncating variant (c.533_536dup; p.Ser180AlafsX6) in BCAP31, inherited from his mother.
PMID:24011989 Cacciagli et al (2013) - loss-of-function mutations in BCAP31 in seven individuals from three families. These persons suffered from motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes, which together define an X-linked syndrome.
Created: 20 Dec 2018, 9:39 a.m.
3 entries on HGMD associaetd with Dystonia phenotype (Cacciagli 2013, 24011989). LoF variants seen in 7 individuals in 3 families
Created: 7 Dec 2018, 4:23 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability; dystonia; sensorineural deafness
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 to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: bcap31 has been classified as Green List (High Evidence).
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
BCAP31 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen