Dystonia - childhood onset

Gene: ERCC6

Red List (low evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 24 panels

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ERCC6 was added gene: ERCC6 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to Unknown Phenotypes for gene: ERCC6 were set to Dystonia