1. Panels
  2. Glaucoma (developmental)
  3. FZD4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

Gene: FZD4

Red List (low 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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.75

Details

Sources
  • Expert Review Amber
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
OMIM
604579
Clinvar variants
Variants in FZD4
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FZD4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory