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  3. PMP22
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Auditory Neuropathy

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Auditory neuropathy has been reported in 4 unrelated CMT1 families, with segregation evidence in 3 of the families.
Created: 13 Nov 2020, 5:53 a.m. | Last Modified: 13 Nov 2020, 5:53 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie Tooth disease type 1; Syndromic auditory neuropathy spectrum disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Nov 2020, 5:53 a.m.
Last Modified: 13 Nov 2020, 5:53 a.m.
Panel version: 0.16

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

CMT caused by variants in PMP22 has been described in association with deafness in a very small number of families. Specific variants may be responsible for the association (A67P, W28R and deletion of 4 amino acids: ala, ile, tyr, and thr, at positions 115-118)
Created: 28 Jan 2020, 10:46 p.m. | Last Modified: 28 Jan 2020, 10:46 p.m.
Panel Version: 0.245

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 1E 118300

Publications

Created: 28 Jan 2020, 10:46 p.m.
Last Modified: 28 Jan 2020, 10:46 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.245

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PMP22 was added gene: PMP22 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMP22 were set to 21176974 Phenotypes for gene: PMP22 were set to Syndromic auditory neuropathy spectrum disorder