Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: NOTCH2

Green List (high evidence)

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

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.

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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

NOTCH2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory NOTCH2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NOTCH2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NOTCH2 was created by sleigh