Activity
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9 actions
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| Adult onset leukodystrophy v0.19 | AARS2 | David Lynch reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.15 | AARS2 |
Catherine Snow Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2 |
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| Adult onset leukodystrophy v0.14 | AARS2 | Catherine Snow reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.10 | AARS2 | Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.9 | AARS2 | Ian Berry reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.8 | AARS2 | Louise Daugherty Publications for gene AARS2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.7 | AARS2 |
Louise Daugherty Source Expert Review Green was added to AARS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v0.6 | AARS2 | Louise Daugherty Source NHS GMS was added to AARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.5 | AARS2 |
Louise Daugherty gene: AARS2 was added gene: AARS2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: AARS2 was set to |
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