Skeletal dysplasia
Gene: NOTCH2

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

4 reviews

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, 11:44 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, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:49 a.m.

Created: 27 Jul 2016, 9:49 a.m.

Panel version: 0.704

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:06 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory

Phenotypes

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

OMIM

600275

Clinvar variants

Variants in NOTCH2

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205 for gene: NOTCH2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NOTCH2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4