1. Panels
  2. Structural eye disease
  3. FZD4
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: FZD4

Amber List (moderate evidence)
FZD4 (frizzled class receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000174804
EnsemblGeneIds (GRCh37): ENSG00000174804
OMIM: 604579, Gene2Phenotype
FZD4 is in 4 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Kartchner one family with microphthalmia; zhang one case with coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 1; 133780

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kartchner one family with microphthalmia; zhang one case with coloboma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 1, 133780

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Exudative vitreoretinopathy 1, 133780
  • Eye Disorders
OMIM
604579
Clinvar variants
Variants in FZD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to FZD4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FZD4. Mode of inheritance for gene FZD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Exudative vitreoretinopathy 1, 133780 for gene: FZD4 Publications for gene FZD4 were changed from to 30882657; 28413837

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FZD4 was added gene: FZD4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: FZD4 was set to Phenotypes for gene: FZD4 were set to Eye Disorders