Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Auditory Neuropathy v0.17 | PMP22 | Bryony Thompson Marked gene: PMP22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.17 | PMP22 | Bryony Thompson Gene: pmp22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.17 | PMP22 | Bryony Thompson Classified gene: PMP22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.17 | PMP22 | Bryony Thompson Gene: pmp22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.16 | PMP22 | Bryony Thompson edited their review of gene: PMP22: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.16 | PMP22 | Bryony Thompson reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11920834, 31393079, 12578939, 10330345, 11835375; Phenotypes: Charcot-Marie Tooth disease type 1, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.0 | PMP22 |
Bryony Thompson 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 |