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Mendeliome v0.3611 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Mendeliome v0.3611 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Mendeliome v0.3611 PMP22 Zornitza Stark 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
Mendeliome v0.3610 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Mendeliome v0.3609 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 PMP22 Zornitza Stark Tag SV/CNV tag was added to gene: PMP22.
Mendeliome v0.3608 PMP22 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Note mechanism is often CNV.
Mendeliome v0.3608 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3590 PMP22 Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.0 PMP22 Zornitza Stark 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