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Fetal anomalies

Gene: FZD2

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 5:56 a.m. | Last Modified: 13 Jan 2022, 5:56 a.m.
Panel Version: 0.2009

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Omodysplasia 2, OMIM #164745

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Autosomal dominant omodysplasia, MONDO:0008123
  • Omodysplasia 2, OMIM:164745
OMIM
600667
Clinvar variants
Variants in FZD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fzd2 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FZD2 were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FZD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: fzd2 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FZD2 was added gene: FZD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia, MONDO:0008123; Omodysplasia 2, OMIM:164745