Intellectual disability update Jan 2018
Gene: MPZEnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on publications: 26310628 is a review of phenotypes associated with MPZ variantsCreated: 28 Feb 2018, 11:43 a.m.
Comment on list classification: Associated with Charcot-Marie-Tooth disease, dominant intermediate D (MIM: 607791), Charcot-Marie-Tooth disease, type 1B (MIM: 118200),
Charcot-Marie-Tooth disease, type 2I (MIM: 607677), Charcot-Marie-Tooth disease, type 2J (MIM: 607736), Dejerine-Sottas disease (MIM: 145900), Neuropathy, congenital hypomyelinating (MIM: 605253) and
Roussy-Levy syndrome (MIM: 180800) in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 28 Feb 2018, 11:38 a.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791)
- Charcot-Marie-Tooth disease, type 1B (118200)
- Charcot-Marie-Tooth disease, type 2I (607677)
- Charcot-Marie-Tooth disease, type 2J (607736)
- Dejerine-Sottas disease (145900)
- Neuropathy, congenital hypomyelinating (605253)
- Roussy-Levy syndrome (180800)
- OMIM
- 159440
- Clinvar variants
- Variants in MPZ
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MPZ were set to Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791); Charcot-Marie-Tooth disease, type 1B (118200); Charcot-Marie-Tooth disease, type 2I (607677); Charcot-Marie-Tooth disease, type 2J (607736); Dejerine-Sottas disease (145900); Neuropathy, congenital hypomyelinating (605253); Roussy-Levy syndrome (180800)
Set publications
Eleanor Williams (Genomics England Curator)Publications for MPZ were set to 26310628
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Eleanor Williams (Genomics England Curator)Publications for MPZ were set to 26310628
Set publications
Eleanor Williams (Genomics England Curator)Publications for MPZ were set to 26310628
Added New Source
Ellen McDonagh (Genomics England Curator)MPZ was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
Created
Ellen McDonagh (Genomics England Curator)MPZ was created by Ellen McDonagh