Adult onset hereditary spastic paraplegia
Gene: RTN2
Adult and childhood onset.Created: 10 May 2019, 9:15 a.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.
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
Spastic paraplegia 12, autosomal dominant, 604805
Publications for gene: RTN2 were set to
Source Yorkshire and North East GLH was added to RTN2.
Source Expert Review Green was added to RTN2. Mode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to RTN2.
gene: RTN2 was added gene: RTN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: RTN2 was set to