Genes in panel

Adult onset movement disorder

Gene: PSEN1

Red List (low evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:45 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

PMID 28664294 reports one patient with early onset dystonia-parkinsonism. PMID 29316780 descibes a patient (and ?other family members) with neuropsychiatric and neurological symtoms, including dystonia in the proband
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal 600274; Pick disease, 172700

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Pick disease, 172700; Dementia, frontotemporal 600274; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1 Publications for gene PSEN1 were changed from to 29316780; 28664294

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PSEN1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PSEN1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PSEN1 was added gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PSEN1 was set to Phenotypes for gene: PSEN1 were set to Dystonia