Skeletal dysplasia
Gene: WNT1EnsemblGeneIds (GRCh38): ENSG00000125084
EnsemblGeneIds (GRCh37): ENSG00000125084
OMIM: 164820, Gene2Phenotype
WNT1 is in 5 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
OI and decreasing bone density gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
OI/osteoporosis; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta
Eleanor Williams (Genomics England Curator)
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: WNT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XV 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant} 615221
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Expert
- Phenotypes
-
- {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
- Osteogenesis imperfecta, type XV, OMIM:615220
- OMIM
- 164820
- Clinvar variants
- Variants in WNT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: WNT1 were set to 23499309; 23499310; 23434763; 23656646
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: WNT1 were set to 34875064
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: WNT1 were set to 34875064
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: WNT1 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WNT1 were changed from {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, OMIM:615220
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WNT1 were changed from osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Expert WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)WNT1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)WNT1 was added to Unexplained skeletal dysplasiapanel. Sources: