Cerebral vascular malformations
Gene: NOTCH3EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panelCreated: 29 Nov 2019, 7:07 p.m. | Last Modified: 29 Nov 2019, 7:07 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Known to cause CADASIL. gain of function mutationsCreated: 8 Dec 2016, 2:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Phenotypes
-
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- DDG2P
- 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
- Early onset or syndromic epilepsy
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Familial Meniere Disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOTCH3 were changed from Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL); Moyamoya disease; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 ; Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL) to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to NOTCH3. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NOTCH3.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NOTCH3.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NOTCH3 were set to 8878478, 20301673
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NOTCH3 were set to 8878478, 20301673
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for NOTCH3 was changed to Other - please provide details in the comments
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Cerebrovascular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Cerebrovascular disorderspanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)NOTCH3 was created by ellenmcdonagh