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| Adult onset leukodystrophy v1.41 | HEPACAM | Arina Puzriakova Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.19 | HEPACAM | David Lynch reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.15 | HEPACAM |
Catherine Snow Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 for gene: HEPACAM |
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| Adult onset leukodystrophy v0.14 | HEPACAM | Catherine Snow reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.10 | HEPACAM | Louise Daugherty reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.9 | HEPACAM | Ian Berry reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.8 | HEPACAM | Louise Daugherty Publications for gene HEPACAM were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.7 | HEPACAM |
Louise Daugherty Source Expert Review Green was added to HEPACAM. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v0.6 | HEPACAM | Louise Daugherty Source NHS GMS was added to HEPACAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.5 | HEPACAM |
Louise Daugherty gene: HEPACAM was added gene: HEPACAM was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: HEPACAM was set to |
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