Childhood onset dystonia, chorea or related movement disorder
Gene: BCAP31

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Deafness, dystonia and cerebellar hypomyelination, 300475

OMIM

300398

Clinvar variants

Variants in BCAP31

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to BCAP31. Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31 Publications for gene BCAP31 were changed from to 28332767; 24011989