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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. |
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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) |
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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. |
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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 |
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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) |
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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 |