Inherited white matter disorders
Gene: GFAPComment on mode of pathogenicity: Dominant negative.Created: 12 Aug 2016, 7:19 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a confirmed DD gene for Alexander Disease. Multiple cases with different variants reported in OMIM. 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.Created: 12 Aug 2016, 7:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 GFAP were set to 25655951
Mode of pathogenicity for GFAP was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
GFAP was added to Inherited white matter disorderspanel. Sources: Expert list
GFAP was created by [email protected]