Adult onset neurodegenerative disorder
Gene: PSEN2
autosomal dominant early-onset form of Alzheimer disease - >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia
Early onset, between 35-60 yearsCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PSEN2 were changed from Alzheimer disease-4, OMIM:606889; Alzheimer disease 4MONDO:0011743 to Alzheimer disease-4, OMIM:606889; Alzheimer disease 4, MONDO:0011743
Phenotypes for gene: PSEN2 were changed from Alzheimer disease-4, OMIM:606889 to Alzheimer disease-4, OMIM:606889; Alzheimer disease 4MONDO:0011743
Phenotypes for gene: PSEN2 were changed from Dementia to Alzheimer disease-4, OMIM:606889
Source Wessex and West Midlands GLH was added to PSEN2.
Publications for gene PSEN2 were changed from 22503161; 23028126 to 7638622; 23028126; 12925374; 22503161
Source Yorkshire and North East GLH was added to PSEN2.
Source NHS GMS was added to PSEN2.
Source London North GLH was added to PSEN2.
Louise Daugherty: Comment on phenotypes: amended
gene: PSEN2 was added gene: PSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 22503161; 23028126 Phenotypes for gene: PSEN2 were set to Dementia