Adult onset neurodegenerative disorder
Gene: ARSI
Spastic paraplegia phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Recent review by CS (27/11/18), one report (24482476).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Yorkshire and North East GLH was added to ARSI.
Source NHS GMS was added to ARSI.
Source South West GLH was added to ARSI.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ARSI was added gene: ARSI was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSI were set to Novarino et al. (2014)