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Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: CST3.
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Classified gene: CST3 as Amber List (moderate evidence)
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten unrelated families reported with a novel adult-onset leukodystrophy disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Gene: cst3 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v5.7 CST3 Achchuthan Shanmugasundram Tag founder-effect was removed from gene: CST3.
Tag Q2_25_ promote_green tag was added to gene: CST3.
Adult onset leukodystrophy v5.7 CST3 Achchuthan Shanmugasundram Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098 to leukodystrophy, MONDO:0019046; Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v5.6 CST3 Achchuthan Shanmugasundram Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672; 8108423
Adult onset leukodystrophy v5.5 CST3 Achchuthan Shanmugasundram Mode of inheritance for gene: CST3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v5.4 CST3 Achchuthan Shanmugasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38489591, 38729262; Phenotypes: leukodystrophy, MONDO:0019046; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v5.4 CST3 David Lynch reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38489591, PMID: 38729262; Phenotypes: leukodystrophy without amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v2.46 CST3 Sarah Leigh commented on gene: CST3: 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 v2.45 CST3 Sarah Leigh Source NHS GMS was added to CST3.
Adult onset leukodystrophy v2.13 CST3 Sarah Leigh reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v2.13 CST3 Sarah Leigh Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Tag founder-effect tag was added to gene: CST3.
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Classified gene: CST3 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Gene: cst3 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.11 CST3 Sarah Leigh Publications for gene: CST3 were set to
Adult onset leukodystrophy v2.10 CST3 Sarah Leigh Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.9 CST3 Sarah Leigh Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v2.9 CST3 Sarah Leigh Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v2.8 CST3 Arina Puzriakova Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
Adult onset leukodystrophy v2.3 CST3 Eleanor Williams reviewed gene: CST3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.2 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: CST3 was set to