Inherited white matter disorders

Gene: MPZ

Red List (low evidence)

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 7 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

6 Oct 2016, Gel status: 1

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.

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Aug 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MPZ was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MPZ was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPZ was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MPZ was created by ellenmcdonagh