Genomics England
GMS Panels
Panels
Genes and Entities

NPTX1

neuronal pentraxin 1
OMIM: 602367
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 50, OMIM:620158
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 50, OMIM:620158