Skeletal dysplasia
Gene: FZD2

FZD2 (frizzled class receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000180340
EnsemblGeneIds (GRCh37): ENSG00000180340
OMIM: 600667, Gene2Phenotype
FZD2 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 isolated cases and 1 mother-daughter pair reported with the condition and 3 different monoallelic variants. The variants were shown to be de novo or expected to be de novo. In vitro functional assays demonstrated impaired Wnt signalling for one of the nonsense variants. The gene contains only one exon, so the transcript didn’t undergo nonsense-mediated decay.
Created: 12 May 2022, 7 a.m. | Last Modified: 12 May 2022, 7 a.m.

Panel Version: 0.14167

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant omodysplasia MONDO:0008123

Publications

Created: 12 May 2022, 7 a.m.
Last Modified: 12 May 2022, 7 a.m.
Panel version: Imported from Mendeliome panel version 0.14167

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

Autosomal dominant omodysplasia type 2 164745
Autosomal dominant omodysplasia 164745

OMIM

600667

Clinvar variants

Variants in FZD2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FZD2 was added gene: FZD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD2 were set to 25759469; 29383834; 29383830; 29230162; 30455931 Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia type 2 164745; Autosomal dominant omodysplasia 164745

Skeletal dysplasia Gene: FZD2