Hereditary neuropathy
Gene: NIPA1
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
Publications
Comment on mode of inheritance: For Spastic paraplegia 6, autosomal dominant (Sourced from OMIM).Created: 4 May 2016, 11:53 a.m.
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Added phenotypes Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant for gene: NIPA1 Publications for gene NIPA1 were changed from PMID: 22302102; 21419568; 14508710; 15643603; 15711826 to 22302102; 21419568; 15643603; 15711826; 14508710
Source NHS GMS was added to NIPA1.
Source South West GLH was added to NIPA1.
Publications for NIPA1 were set to PMID: 22302102; 21419568; 14508710; 15643603; 15711826
Mode of inheritance for NIPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
NIPA1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory