GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: NOTCH1EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 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: NOTCH1; 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: Thoracic aortic aneurysm or dissectionCreated: 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
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection
- Clefting
- Limb disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to NOTCH1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NOTCH1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NOTCH1 was added gene: NOTCH1 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: NOTCH1 was set to