Cytopenias and congenital anaemias
Gene: NOTCH1EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Mode of inheritance
Unknown
Phenotypes
Acute lymphoblastic leukemia (ALL)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: The COSMIC census gene list indicates that somatic variants in this gene are reported in: T-ALL; breast; bladder; skin SCC; lung SCC; head and neck SCC.Created: 9 Mar 2017, 3:46 p.m.
Comment on mode of inheritance: Phenotypes Adams-Oliver syndrome 5 616028 and Aortic valve disease 1 109730 are both monoallelic, but not relevant to this panelCreated: 9 Mar 2017, 3:41 p.m.
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
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute lymphoblastic leukemia (ALL)
- Tags
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for NOTCH1 were set to 21562564; 21642962
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NOTCH1 was changed to Unknown
Created
Louise Daugherty (Genomics England Curator)NOTCH1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)NOTCH1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)