Familial Meniere 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
0 reviews
Details
- Sources
-
- Literature
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
- Familial cerebral small vessel disease
- CADASIL
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- Familial Meniere Disease
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Leukodystrophy, adult onset
- Cerebral vascular malformations
- Paediatric disorders - additional genes
- Intellectual disability
- Inherited white matter disorders
- Early onset or syndromic epilepsy
History Filter Activity
27 Mar 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
17 Jan 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)NOTCH3 was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)NOTCH3 was created by Eleanor Williams