Structural eye disease
Gene: NOTCH2EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
RH Saravanamuthu et al - Notch2 mutant mice have microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hajdu-Cheney syndrome; Alagille syndrome 2; 102500; 610205
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH Saravanamuthu et al - Notch2 mutant mice have microphthalmiaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hajdu-Cheney syndrome; Alagille syndrome 2; 102500; 610205
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Phenotypes
-
- Hajdu-Cheney syndrome, 102500
- Alagille syndrome 2, 610205
- OMIM
- 600275
- Clinvar variants
- Variants in NOTCH2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NOTCH2 was added gene: NOTCH2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 22173065 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205