Inherited white matter disorders
Gene: NOTCH3EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
1 review
Zornitza Stark (Australian Genomics)
Over a hundred patients reported with heterozygous variants in this gene. White matter changes are part of the phenotype.Created: 24 Jul 2018, 5:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#600276
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Phenotypes
-
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- Complete
- 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 mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOTCH3 were changed from CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)NOTCH3 was created by ellenmcdonagh