Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

Gene: PMP22

Amber List (moderate 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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 1E 118300
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmp22 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMP22 were set to

28 Jan 2020, Gel status: 2

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

28 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmp22 has been classified as Amber List (Moderate Evidence).

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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PMP22 was set to Unknown