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| Leukodystrophy - adult onset v0.39 | NPC1 | Zornitza Stark Marked gene: NPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.39 | NPC1 | Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.8 | NPC2 |
Bryony Thompson gene: NPC2 was added gene: NPC2 was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 25396745 Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625 Review for gene: NPC2 was set to AMBER Added comment: White matter lesions associated with NPC1, but haven't been reported in association with NPC2 in humans. A cat with Niemann-pick and white matter degeneration identified during autopsy and a biallelic NPC2 variant. Sources: Expert list |
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| Leukodystrophy - adult onset v0.7 | NPC1 | Bryony Thompson Classified gene: NPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.7 | NPC1 | Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.6 | NPC1 |
Bryony Thompson gene: NPC1 was added gene: NPC1 was added to Leukodystrophy - 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 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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