Transplant Co-Morbidity Superpanel
Gene: NOTCH2
NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hajdu-Cheney syndrome (MIM#102500)
- OMIM
- 600275
- Clinvar variants
- Variants in NOTCH2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Congenital Heart Defect
- Cholestasis
- Liver Failure_Paediatric
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- BabyScreen+ newborn screening
- Alagille syndrome
- Transplant Co-Morbidity Superpanel
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NOTCH2 was added gene: NOTCH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 21378989; 21378985; 16773578 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome (MIM#102500)