Genomics England
GMS Panels
Panels
Genes and Entities
NPTX1
neuronal pentraxin 1
OMIM:
602367
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Panel
Mode of inheritance
Details
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in
Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
- Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 50, OMIM:620158