Inherited white matter disorders
Gene: BCS1LComment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple cases with different variants reported in OMIM for Mitochondrial complex III disorders. 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. Is rated green in the version 1.7 mitochondrial gene panel.Created: 12 Aug 2016, 11:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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).
Publications for BCS1L were set to 25655951
Phenotypes for BCS1L were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex III disorders
This gene has been classified as Green List (High Evidence).
BCS1L was created by [email protected]
BCS1L was added to Inherited white matter disorderspanel. Sources: Expert list