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Research panel - Severe Paediatric Disorders

Gene: MPZ

Green List (high evidence)
MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MPZ; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3) | Charcot-Marie-Tooth disease, type 1B, 118200 (3) | Charcot-Marie-Tooth disease, type 2I, 607677 (3) | Charcot-Marie-Tooth disease, type 2J, 607736 (3) | Dejerine-Sottas disease, 145900 (3) | Hypomyelinating neuropathy, congenital, 2, 618184 (3) | Roussy-Levy syndrome, 180800 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, type 2I, 607677
  • Dejerine-Sottas disease, 145900
  • Charcot-Marie-Tooth disease, type 2J, 607736
  • Roussy-Levy syndrome, 180800
  • Charcot-Marie-Tooth disease, type 1B, 118200
  • Hypomyelinating neuropathy, congenital, 2, 618184
  • Charcot-Marie-Tooth disease, dominant intermediate D, 607791
OMIM
159440
Clinvar variants
Variants in MPZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MPZ were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 1B, 118200; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MPZ.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MPZ. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MPZ was added gene: MPZ was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MPZ was set to