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Osteogenesis imperfecta

Gene: WNT1

Green List (high evidence)

WNT1 (Wnt family member 1)
EnsemblGeneIds (GRCh38): ENSG00000125084
EnsemblGeneIds (GRCh37): ENSG00000125084
OMIM: 164820, Gene2Phenotype
WNT1 is in 7 panels

6 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: WNT1; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
osteogenesis imperfecta

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed to "Both" due to reviewer input.
Created: 16 May 2016, 10:12 a.m.
Comment on list classification: Agreement from 2 reviewers, and is a confirmed DD gene for OI.
Created: 16 May 2016, 10:12 a.m.

Raymond Dalgleish (University of Leicester)

https://oi.gene.le.ac.uk/home.php?select_db=WNT1
Created: 8 Dec 2015, noon

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type XV, 615220
  • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
  • osteogenesis imperfecta
OMIM
164820
Clinvar variants
Variants in WNT1
Penetrance
Complete
Publications
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 WNT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

16 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for WNT1 were set to Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta

16 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for WNT1 were set to PMID: 23434763; 2349931

16 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WNT1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

16 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Chris Boustred (Genomics England)

Mode of inheritance for WNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT1 was added to Osteogenesis Imperfecta panel. Sources: Expert