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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