Inherited white matter disorders
Gene: BCAP31Comment 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for BCAP31 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Amber List (Moderate Evidence).
BCAP31 was created by ellenmcdonagh
BCAP31 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen