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| Adult onset leukodystrophy v0.19 | MTHFR | David Lynch reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.15 | MTHFR |
Catherine Snow Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR |
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| Adult onset leukodystrophy v0.14 | MTHFR | Catherine Snow reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.13 | MTHFR | Louise Daugherty Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685; 29391032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.12 | MTHFR | Louise Daugherty Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.10 | MTHFR | Louise Daugherty reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.9 | MTHFR | Ian Berry reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29391032; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.8 | MTHFR | Louise Daugherty Publications for gene MTHFR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.7 | MTHFR |
Louise Daugherty Source Expert Review Green was added to MTHFR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v0.6 | MTHFR | Louise Daugherty Source NHS GMS was added to MTHFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.5 | MTHFR |
Louise Daugherty gene: MTHFR was added gene: MTHFR was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MTHFR was set to |
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