Inherited white matter disorders
Gene: MPZComment on list classification: These are peripheral demyelinating conditions, not central white matter disorders.Created: 6 Oct 2016, 9:47 a.m.
Comment on mode of inheritance: Both for Dejerine-Sottas disease and Neuropathy, congenital hypomyelinating.Created: 26 Aug 2016, 9:38 a.m.
Comment on list classification: Found in 2/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Green in the Charcot-Marie-Tooth disease Version 1 panel. Cases in OMIM reported for Charcot-Marie-Tooth disease, Neuropathy, congenital hypomyelinating, Roussy-Levy syndrome, Dejerine-Sottas disease; unsure if these are considered as white matter disorders.Created: 26 Aug 2016, 9:37 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 Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MPZ was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
MPZ was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
MPZ was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
MPZ was created by ellenmcdonagh