Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: NOTCH3

Green List (high evidence)

NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 11 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment on list classification: Associated with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) which can lead to dementia, also known as hereditary multi-infarct dementia. Lots of patients on ClinVar
Created: 10 May 2016, 2:13 p.m.

History Filter Activity

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for NOTCH3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH3 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN