Osteogenesis imperfecta
Gene: WNT1
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: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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.
https://oi.gene.le.ac.uk/home.php?select_db=WNT1Created: 8 Dec 2015, noon
Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 to Osteogenesis imperfecta, type XV, OMIM:615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
Publications for gene: WNT1 were set to 23434763; 2349931
Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta to Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
Publications for gene: WNT1 were set to PMID: 23434763; 2349931
Source NHS GMS was added to WNT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for WNT1 were set to Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta
Publications for WNT1 were set to PMID: 23434763; 2349931
Mode of inheritance for WNT1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for WNT1 was changed to BIALLELIC, autosomal or pseudoautosomal
WNT1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
WNT1 was added to Osteogenesis Imperfecta panel. Sources: Expert