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Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN2.
Tag Q1_23_NHS_review was removed from gene: PSEN2.
Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh edited their review of gene: PSEN2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Adult onset leukodystrophy v2.45 PSEN2 Sarah Leigh Source NHS GMS was added to PSEN2.
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PSEN2.
Tag Q1_23_NHS_review tag was added to gene: PSEN2.
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Classified gene: PSEN2 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Gene: psen2 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.34 PSEN2 Sarah Leigh Publications for gene: PSEN2 were set to 9450781
Adult onset leukodystrophy v2.33 PSEN2 Sarah Leigh Mode of inheritance for gene: PSEN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.32 PSEN2 Sarah Leigh Phenotypes for gene: PSEN2 were changed from to Alzheimer disease-4, OMIM:606889; Alzheimer disease 4, MONDO:0011743
Adult onset leukodystrophy v2.31 PSEN2 Sarah Leigh Publications for gene: PSEN2 were set to
Adult onset leukodystrophy v2.3 PSEN2 Eleanor Williams reviewed gene: PSEN2: Rating: ; Mode of pathogenicity: ; Publications: 9450781; Phenotypes: PSEN2 related cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.2 PSEN2 Eleanor Williams gene: PSEN2 was added
gene: PSEN2 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: PSEN2 was set to