Inherited white matter disorders
Gene: MPZEnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: These are peripheral demyelinating conditions, not central white matter disorders.Created: 6 Oct 2016, 9:47 a.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital Hypomyelination
- Neuropathy,congenital hypomyelinating,605253
- OMIM
- 159440
- Clinvar variants
- Variants in MPZ
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MPZ was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MPZ was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MPZ was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)MPZ was created by ellenmcdonagh