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Osteogenesis imperfecta

Gene: NOTCH2

Green List (high evidence)

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

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH2; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.

Chris Boustred (Genomics England)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Hajdu-Cheney Syndrome
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
OMIM
600275
Clinvar variants
Variants in NOTCH2
Penetrance
Complete
Panels with this gene

History Filter Activity

13 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)

10 May 2016, Gel status: 4

Set Mode of Inheritance

Chris Boustred (Genomics England)

Mode of inheritance for NOTCH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory