Cholestasis
Gene: NOTCH2EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Liver disease is a feature of Alagille syndrome.Created: 24 Mar 2022, 10:04 p.m. | Last Modified: 24 Mar 2022, 10:04 p.m.
Panel Version: 0.222
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2 (MIM#610205)
Krithika Murali (Victorian Clinical Genetics Services)
Monoallelic NOTCH2 variants identified in Alagille syndrome probands (liver, renal, and cardiac disease) and Hajdu-Cheney syndrome (characterized by the association of facial anomalies, radiological findings, periodontal disease, cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes).Created: 23 Mar 2022, 10:32 p.m. | Last Modified: 23 Mar 2022, 10:32 p.m.
Panel Version: 0.222
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alagille syndrome 2 (MIM#610205)
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: notch2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NOTCH2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NOTCH2 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: NOTCH2 was added gene: NOTCH2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOTCH2 was set to Unknown