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  3. MPZ
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BRIDGE_SPEED_NEURO_20170705

Gene: MPZ

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 5:05 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:45 p.m.
Created: 31 Jul 2017, 12:45 p.m.

Panel version: 0.99

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Charcot-Marie-Tooth disease, type 1B, 118200
  • Dejerine-Sottas disease, 145900
  • Neuropathy, congenital hypomyelinating, 605253
  • Charcot-Marie-Tooth disease, type 2J, 607736
  • Roussy-Levy syndrome, 180800
  • Charcot-Marie-Tooth disease, type 2I, 607677
  • Charcot-Marie-Tooth disease, dominant intermediate D, 607791
OMIM
159440
Clinvar variants
Variants in MPZ
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MPZ were set to Charcot-Marie-Tooth disease, type 1B, 118200; Dejerine-Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, dominant intermediate D, 607791

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MPZ was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

MPZ was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green