This Panel is marked as Internal
Moyamoya disease
Gene: NOTCH3
NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 17 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric disorders - additional genes
- Multiple monogenic benign skin tumours
- Adult onset neurodegenerative disorder
- CADASIL
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Childhood solid tumours
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
History Filter Activity
1 Apr 2016, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Moyamoya diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
1 Apr 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Moyamoya diseasepanel. Sources: UKGTN,Expert list
30 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Moyamoya diseasepanel. Sources: Expert list
30 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NOTCH3 was created by ellenmcdonagh