Dystonia - childhood onset

Gene: PSEN1

Red List (low evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 14 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: PSEN1 was added gene: PSEN1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: PSEN1 was set to Unknown Phenotypes for gene: PSEN1 were set to Dystonia