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Adult onset leukodystrophy v1.28 | GALC | Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.19 | GALC | David Lynch reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.15 | GALC |
Catherine Snow Mode of inheritance for gene GALC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Krabbe disease, 245200 for gene: GALC |
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Adult onset leukodystrophy v0.14 | GALC | Catherine Snow reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.10 | GALC | Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.9 | GALC | Ian Berry reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.8 | GALC | Louise Daugherty Publications for gene GALC were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.7 | GALC |
Louise Daugherty Source Expert Review Green was added to GALC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset leukodystrophy v0.6 | GALC | Louise Daugherty Source NHS GMS was added to GALC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.5 | GALC |
Louise Daugherty gene: GALC was added gene: GALC was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: GALC was set to |