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Adult onset leukodystrophy v1.29 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form, 263570 to Polyglucosan body disease, adult form, OMIM:263570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.19 | GBE1 | David Lynch reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.15 | GBE1 |
Catherine Snow Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polyglucosan body disease, adult form, 263570 for gene: GBE1 |
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Adult onset leukodystrophy v0.14 | GBE1 | Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyglucosan body disease, adult form, 263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.10 | GBE1 | Louise Daugherty reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.9 | GBE1 | Ian Berry reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.8 | GBE1 | Louise Daugherty Publications for gene GBE1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.7 | GBE1 |
Louise Daugherty Source Expert Review Green was added to GBE1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset leukodystrophy v0.6 | GBE1 | Louise Daugherty Source NHS GMS was added to GBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.5 | GBE1 |
Louise Daugherty gene: GBE1 was added gene: GBE1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: GBE1 was set to |