Neurodegenerative disorders - adult onsetGene: ERCC6
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
Multisystem disorder that in majority of cases are childhood onset. May be small number of late onset cases.
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
Cockayne syndrome, type B, 133540
Publications for gene ERCC6 were changed from to 18185538
Source NHS GMS was added to ERCC6.
Source Yorkshire and North East GLH was added to ERCC6.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ERCC6 was added gene: ERCC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to Unknown Phenotypes for gene: ERCC6 were set to Dystonia