Deafness_IsolatedAndComplex
Gene: PMP22
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
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
Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300
Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Publications for gene: PMP22 were set to
Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300
Gene: pmp22 has been classified as Amber List (Moderate Evidence).
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