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Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: OCRL.
Tag Q4_23_expert_review was removed from gene: OCRL.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.2 OCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to OCRL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: OCRL.
Tag Q4_23_expert_review tag was added to gene: OCRL.
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16722554; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Publications for gene: OCRL were set to 27159321; 25527826; 28334938; 20301621; 24357685; 33517444
Adult onset leukodystrophy v1.10 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 to Lowe syndrome, OMIM:309000
Adult onset leukodystrophy v1.9 OCRL Eleanor Williams Publications for gene: OCRL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v1.8 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v1.4 OCRL Zornitza Stark reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: None
Adult onset leukodystrophy v0.19 OCRL David Lynch reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.15 OCRL Catherine Snow Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lowe syndrome, 309000 for gene: OCRL
Adult onset leukodystrophy v0.14 OCRL Catherine Snow reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.10 OCRL Louise Daugherty reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 OCRL Ian Berry reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 OCRL Louise Daugherty Publications for gene OCRL were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 OCRL Louise Daugherty Source Expert Review Green was added to OCRL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 OCRL Louise Daugherty Source NHS GMS was added to OCRL.
Adult onset leukodystrophy v0.5 OCRL Louise Daugherty gene: OCRL was added
gene: OCRL was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: OCRL was set to