Adult onset neurodegenerative disorder
Gene: DDC
Onset in early 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.
Aromatic L-amino acid decarboxylase deficiency (OMIM: 608643). Phenotype includes dystonia and onset in infancy. Many reported cases/variants/families and green gene in Dystonia - childhood onset panel.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia
Phenotypes for gene: DDC were changed from Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Source Expert Review Red was added to DDC. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to DDC.
Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: ddc has been classified as Green List (High Evidence).
Source NHS GMS was added to DDC.
Source South West GLH was added to DDC.
Rebecca Foulger: Gene awaiting curator evaluati
gene: DDC was added gene: DDC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DDC was set to Unknown Phenotypes for gene: DDC were set to Dystonia