Leukodystrophy Victorian Clinical Genetics Services
Gene: NOTCH3EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- None
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- CADASIL
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Intellectual disability
- Childhood solid tumours
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- DDG2P
- Paediatric disorders - additional genes
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial Meniere Disease
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)NOTCH3 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)NOTCH3 was created by Sarah Leigh