Inherited white matter disorders
Gene: BCAP31
BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Hemizygous/X-linked recessive: female carriers do not seem to be affacted.Created: 26 Aug 2016, 11:01 a.m.
Comment on list classification: On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Deafness, dystonia, and cerebral hypomyelination. It is a confirmed DD gene for DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS. There are more than 3 families/cases with different variants reported in OMIM, from the same study. It is not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory.Created: 26 Aug 2016, 11:01 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Deafness, dystonia and cerebellar hypomyelination, 300475
- OMIM
- 300398
- Clinvar variants
- Variants in BCAP31
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
6 Oct 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Aug 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BCAP31 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Aug 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BCAP31 was created by ellenmcdonagh
5 Apr 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BCAP31 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen