Dystonia - childhood onset

Gene: BCAP31

Green List (high evidence)

BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
OMIM
300398
Clinvar variants
Variants in BCAP31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

20 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bcap31 has been classified as Green List (High Evidence).

20 Dec 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BCAP31 were set to

20 Dec 2018, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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