Early onset dystonia

Gene: PSEN1

Red List (low evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels

0 reviews

History Filter Activity

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PSEN1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory