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Mendeliome

Gene: PMP22

Green List (high evidence)

PMP22 (peripheral myelin protein 22)
EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 6 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Note mechanism is often CNV.
Created: 30 Jul 2020, 11:47 p.m. | Last Modified: 30 Jul 2020, 11:47 p.m.
Panel Version: 0.3608

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800

Eleanor Williams (Genomics England)

PMID: 32356557 - Pantera et al 2020 - investigate the effect of a distal super-enhancer domain on the expression of PMP22. Loss of the super-enhancer in mice reduces Pmp22 expression throughout development and into adulthood. The mice display tomacula formed by excessive myelin folding, which is a pathological hallmark of HNPP (hereditary neuropathy with liability to pressure palsies). The findings demonstrate a mechanism by which smaller copy number variations, not including the Pmp22 gene, are sufficient to reduce gene expression and phenocopy a peripheral neuropathy caused by the HNPP-associated deletion encompassing PMP22.
Created: 30 Jul 2020, 2:17 p.m. | Last Modified: 30 Jul 2020, 2:17 p.m.
Panel Version: 0.3590

Publications

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Both SNVs and CNVs cause disease
Created: 16 Jun 2020, 4:57 a.m. | Last Modified: 16 Jun 2020, 4:57 a.m.
Panel Version: 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 1A, MIM# 118220
  • Charcot-Marie-Tooth disease, type 1E, MIM# 118300
  • Dejerine-Sottas disease, MIM# 145900
  • Neuropathy, recurrent, with pressure palsies 162500
  • Roussy-Levy syndrome 180800
Tags
SV/CNV
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmp22 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800

30 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMP22 were set to

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PMP22.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMP22 was added gene: PMP22 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PMP22 was set to Unknown