Inherited white matter disorders
Gene: SOX10Comment on list classification: Gene added and rated green and diagnostic-grade by expert reviewer. It is a onfirmed DD gene for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, multiple cases and different variants reported in OMIM for PCWH. 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: 5 Aug 2016, 9:45 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 SOX10 were set to 25655951
Phenotypes for SOX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
This gene has been classified as Green List (High Evidence).
SOX10 was added to Inherited white matter disorderspanel. Sources: Expert list
SOX10 was created by [email protected]