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Adult onset leukodystrophy v6.4 NOTCH3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic cysteine-involving missense variants of NOTCH3 gene with early-adult-onset leukodystrophy. Hence, the MOI can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Adult onset leukodystrophy v6.4 NOTCH3 Achchuthan Shanmugasundram Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v6.3 NOTCH3 Achchuthan Shanmugasundram Publications for gene: NOTCH3 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v6.2 NOTCH3 Achchuthan Shanmugasundram Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310; neurodevelopmental disorder, MONDO:0700092; leukodystrophy, MONDO:0019046
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: NOTCH3.
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram edited their review of gene: NOTCH3: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, leukodystrophy, MONDO:0019046
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39191170; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.24 NOTCH3 Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Adult onset leukodystrophy v0.19 NOTCH3 David Lynch reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.15 NOTCH3 Catherine Snow Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Adult onset leukodystrophy v0.14 NOTCH3 Catherine Snow reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.10 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 NOTCH3 Ian Berry reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 NOTCH3 Louise Daugherty Publications for gene NOTCH3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 NOTCH3 Louise Daugherty Source Expert Review Green was added to NOTCH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Adult onset leukodystrophy v0.5 NOTCH3 Louise Daugherty gene: NOTCH3 was added
gene: NOTCH3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: NOTCH3 was set to