Adult onset neurodegenerative disorder
Gene: DLAT
Onset in infancyCreated: 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
Phenotypes
Dystonia
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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.
Pyruvate dehydrogenase E2 deficiency (OMIM: 245348). Phenotype includes episodic dystonia. Green gene for Dystonia - childhood onset & Early onset dystonia panels.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia
Source Expert Review Red was added to DLAT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to DLAT.
Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: dlat has been classified as Green List (High Evidence).
Source NHS GMS was added to DLAT.
Source South West GLH was added to DLAT.
Rebecca Foulger: Gene awaiting curator evaluati
gene: DLAT was added gene: DLAT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DLAT was set to Unknown Phenotypes for gene: DLAT were set to Dystonia