Adult onset neurodegenerative disorder
Gene: MR1
No evidence of association with diseaseCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia; Paroxysmal/Episodic dystonia
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.
Appears to have been confused with PNKD (which has been referred to as MR1/MR-1).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia; Paroxysmal/Episodic dystonia
Source Yorkshire and North East GLH was added to MR1.
Source NHS GMS was added to MR1.
Source South West GLH was added to MR1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: MR1 was added gene: MR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MR1 were set to Dystonia; Paroxysmal/Episodic dystonia