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Leukodystrophy - adult onset v0.121 APP Bryony Thompson Marked gene: APP as ready
Leukodystrophy - adult onset v0.121 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.121 APP Bryony Thompson Classified gene: APP as Green List (high evidence)
Leukodystrophy - adult onset v0.121 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.120 APP Bryony Thompson gene: APP was added
gene: APP was added to Leukodystrophy - adult onset. Sources: Other
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 36845656
Phenotypes for gene: APP were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Review for gene: APP was set to GREEN
gene: APP was marked as current diagnostic
Added comment: White matter abnormalities are a common feature of Alzheimer's disease
Sources: Other
Leukodystrophy - adult onset v0.82 SPG21 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is SPG21.
Leukodystrophy - adult onset v0.2 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 16966556; 12020274
Phenotypes for gene: ATP7B were set to Wilson disease, 277900
Review for gene: ATP7B was set to AMBER
Added comment: White matter changes have been reported in Wilson's disease, but it doesn't appear to be a common feature of the condition.
Sources: Expert list