Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: PSEN1
Comment on phenotypes: format changesCreated: 6 Feb 2017, 5:18 p.m.
Comment when marking as ready: On eligibility criteriaCreated: 10 May 2016, 11:28 a.m.
Comment on list classification: One of main well known causes of hereditary early onset ADCreated: 10 May 2016, 11:25 a.m.
Comment on mode of inheritance: See OMIMCreated: 10 May 2016, 11:21 a.m.
Phenotypes for PSEN1 were set to Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Cardiomyopathy, dilated, 1U, 613694;Dementia, frontotemporal, 600274;Pick disease, 172700; Clinical syndrome Alzheimer disease
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PSEN1 were set to 22503161;23028126
Mode of inheritance for PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing
PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN