Osteogenesis Imperfecta and Osteoporosis
Gene: WNT1

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

Created: 14 May 2022, 3:08 a.m.
Last Modified: 14 May 2022, 3:08 a.m.
Panel version: 0.81

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