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| Adult onset leukodystrophy v0.19 | HEXA | David Lynch reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.15 | HEXA |
Catherine Snow Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 for gene: HEXA |
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| Adult onset leukodystrophy v0.14 | HEXA | Catherine Snow reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.10 | HEXA | Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.9 | HEXA | Ian Berry reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.8 | HEXA | Louise Daugherty Publications for gene HEXA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.7 | HEXA |
Louise Daugherty Source Expert Review Green was added to HEXA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v0.6 | HEXA | Louise Daugherty Source NHS GMS was added to HEXA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.5 | HEXA |
Louise Daugherty gene: HEXA was added gene: HEXA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: HEXA was set to |
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