Childhood onset hereditary spastic paraplegia
Gene: RTN2
Adult and childhood onset.Created: 10 May 2019, 9:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 12, autosomal dominant, 604805
Onset of SPG12 usually in the first decadeCreated: 14 Jan 2019, 5:22 p.m.
Onset of SPG12 usually in the first decadeCreated: 14 Jan 2019, 5:22 p.m.
Publications for gene: RTN2 were set to 22232211
Source Yorkshire and North East GLH was added to RTN2.
Source NHS GMS was added to RTN2.
Source London North GLH was added to RTN2.
Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Arianna Tucci: Onset of SPG12 usually in the
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805
gene: RTN2 was added gene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RTN2 were set to Montenegro et al. (2012) Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant