Osteogenesis Imperfecta and Osteoporosis

Gene: WNT1

Green List (high evidence)

WNT1 (Wnt family member 1)
EnsemblGeneIds (GRCh38): ENSG00000125084
EnsemblGeneIds (GRCh37): ENSG00000125084
OMIM: 164820, Gene2Phenotype
WNT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported.
Created: 14 May 2022, 3:08 a.m. | Last Modified: 14 May 2022, 3:08 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV, MIM# 615220

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, MIM# 615220
OMIM
164820
Clinvar variants
Variants in WNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

14 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt1 has been classified as Green List (High Evidence).

14 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV, MIM# 615220

14 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WNT1 were set to

14 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT1 was added gene: WNT1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT1 was set to Unknown