Inherited white matter disorders

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 11 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

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