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| Adult onset leukodystrophy v3.8 | NPC1 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.8 | NPC1 | Achchuthan Shanmugasundram edited their review of gene: NPC1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.8 | NPC1 | Achchuthan Shanmugasundram Classified gene: NPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.8 | NPC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating NPC1 with white matter abnormalities in adulthood. However, there are several other cases with childhood-onset and functional evidence from animal models. This gene should be rated AMBER and 'watchlist' tag should be added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.8 | NPC1 | Achchuthan Shanmugasundram Gene: npc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.7 | NPC1 | Achchuthan Shanmugasundram Publications for gene: NPC1 were set to 26910362; 29406968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.6 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910362, 27900365, 29406968, 31254056; Phenotypes: Niemann-Pick disease, type C1, OMIM:257220, Niemann-Pick disease, type D, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.4 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 26910362; 29406968 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D 257220 Review for gene: NPC1 was set to GREEN gene: NPC1 was marked as current diagnostic Added comment: White matter lesions identified in MRI of 5/11 of Niemann-Pick patients (including adult-onset) and in an NPC mouse model. Sources: Expert list |
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