BRIDGE_SPEED_NEURO_20170705
Gene: PSEN1

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_gilissen_2014_known;in_omim_20150205_movement;in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:38 a.m.

Mode of inheritance
Unknown

Publications

24896178
omim.org
Personal communication with NIHRBRRD BRIDGE SPEED
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 6:24 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Alzheimer disease, type 3, 607822
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
Dementia, frontotemporal, 600274
Pick disease, 172700
Cardiomyopathy, dilated, 1U, 613694
Acne inversa, familial, 3, 613737

OMIM

104311

Clinvar variants

Variants in PSEN1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PSEN1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created