Alagille syndrome
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2, MIM# 610205
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
- 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 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: notch2 has been classified as Green List (High Evidence).
1 Aug 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2, MIM# 610205
17 Nov 2019, Gel status: 3
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 Alagille syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted