Vitreoretinopathy

Gene: FZD4

Green List (high evidence)

FZD4 (frizzled class receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000174804
EnsemblGeneIds (GRCh37): ENSG00000174804
OMIM: 604579, Gene2Phenotype
FZD4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 16 Jan 2021, 9:33 a.m. | Last Modified: 16 Jan 2021, 9:33 a.m.
Panel Version: 0.42

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 1, MIM# 133780

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 1, MIM# 133780
OMIM
604579
Clinvar variants
Variants in FZD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fzd4 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FZD4 were set to

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

gene: FZD4 was added gene: FZD4 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FZD4 was set to Unknown