Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: NOTCH3
NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
2 reviews
simon mead (UCL)
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 ClinVarCreated: 10 May 2016, 2:13 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Dementia
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- CADASIL
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Paediatric disorders - additional genes
- Childhood solid tumours
- Familial cerebral small vessel disease
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
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