GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NOTCH2

NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteolysis gp of SD, at least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Alagille syndrome 2 610205

OMIM

600275

Clinvar variants

Variants in NOTCH2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NOTCH2 was added gene: NOTCH2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: NOTCH2