Adult onset neurodegenerative disorder
Gene: ARL6IP1
Congenital onset of ataxic or spastic phenotype.Created: 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 (26/11/18), 2 reports (28471035, 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 ARL6IP1.
Source NHS GMS was added to ARL6IP1.
Source South West GLH was added to ARL6IP1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ARL6IP1 was added gene: ARL6IP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to Novarino et al. (2014)