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  2. BRIDGE_SPEED_NEURO_20170705
  3. PMP22
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BRIDGE_SPEED_NEURO_20170705

Gene: PMP22

Green List (high evidence)
PMP22 (peripheral myelin protein 22)
EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 7 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, 10:35 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, 6:07 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:56 p.m.
Created: 31 Jul 2017, 1:56 p.m.

Panel version: 0.124

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 1A, 118220
  • Dejerine-Sottas disease, 145900
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Charcot-Marie-Tooth disease, type 1E, 118300
  • Roussy-Levy syndrome, 180800
  • Neuropathy, inflammatory demyelinating, 139393
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PMP22 were set to Charcot-Marie-Tooth disease, type 1A, 118220; Dejerine-Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1E, 118300; Roussy-Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PMP22 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PMP22 was created by LouiseD