Adult onset hereditary spastic paraplegia
Gene: NIPA1
Adult and childhood onset.Created: 9 May 2019, 6:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
mutations published in North American, chinses, british families.In current HSP panel + In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363
Publications for gene: NIPA1 were set to
Source Yorkshire and North East GLH was added to NIPA1.
Source Expert Review Green was added to NIPA1. Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 for gene: NIPA1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to NIPA1.
gene: NIPA1 was added gene: NIPA1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NIPA1 was set to