Bleeding and Platelet Disorders
Gene: NOTCH1EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 17 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Monoallelic NOTCH1 variants identified in >10 families with Adams-Oliver syndrome, defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). Congenital heart defects have been estimated to be present in 20% of individuals with AOS; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot.
ClinGen – Limited evidence for familial thoracic aortic aneurysm and aortic dissection.Created: 23 Mar 2022, 10:26 p.m. | Last Modified: 23 Mar 2022, 10:26 p.m.
Panel Version: 0.11860
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adams-Oliver syndrome 5 (MIM#616028)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported, incomplete penetrance.Created: 15 Aug 2020, 8:41 a.m. | Last Modified: 15 Aug 2020, 8:41 a.m.
Panel Version: 0.129
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aortic aneurysm
- OMIM
- 190198
- Clinvar variants
- Variants in NOTCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Leukodystrophy - adult onset
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Hand and foot malformations
- Hereditary Spastic Paraplegia - adult onset
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: notch1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOTCH1 were changed from to Aortic aneurysm
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NOTCH1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NOTCH1 was added gene: NOTCH1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOTCH1 was set to Unknown