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Ataxia and cerebellar anomalies - narrow panel v0.72 | NPC2 | Louise Daugherty Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2 (#607625) to Niemann-Pick disease type C2, 607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625) |