Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ADAMS-OLIVER SYNDROME
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- ADAMS-OLIVER SYNDROME
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection
- Limb disorders
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NOTCH1 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH1 was added to Cleftingpanel. Sources: Expert Review Green