Hereditary Neuropathy_CMT - isolated
Gene: PMP22EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 6 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 diseaseCreated: 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, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Charcot Marie Tooth disease, type 1A, 118220
- Roussy Levy syndrome, 180800
- Neuropathy, inflammatory demyelinating, 139393
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot Marie Tooth disease, type 1E, 118300
- Dejerine Sottas disease, 145900
- HMSN
- Tags
- OMIM
- 601097
- Clinvar variants
- Variants in PMP22
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmp22 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pmp22 has been classified as Green List (High Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag SV/CNV tag was added to gene: PMP22.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PMP22 was added gene: PMP22 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN