This Panel is marked as Internal
Anaemias and red cell disorders
Gene: NOTCH1
NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute lymphoblastic leukemia (ALL)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Acute lymphoblastic leukemia (ALL)
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Thoracic aortic aneurysm or dissection
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Clefting
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)NOTCH1 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)NOTCH1 was created by BRIDGE