This Panel is marked as Deleted
GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
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
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: NOTCH3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? not submitted; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Cerebral vascular malformationsCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.Created: 27 Feb 2019, 2:22 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- None
- 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
27 Feb 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to NOTCH3. Rating Changed from Red List (low evidence) to Green List (high evidence)
27 Feb 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NOTCH3.
27 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NOTCH3 was added gene: NOTCH3 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: NOTCH3 was set to