1. Panels
  2. Bilateral congenital or childhood onset cataracts
  3. FZD4
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Bilateral congenital or childhood onset cataracts

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

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Cataracts have been reported as secondary to retinal avascularity
Created: 25 May 2016, 8:10 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted to red due to expert review.
Created: 31 May 2016, 9:41 a.m.
Is on the Manchester congenital cataracts gene panel. Not associated with a disease in G2P. Asspcoated with Retinopathy of prematurity and Exudative vitreoretinopathy 1 in OMIM (which don't seem to include a cataract phenotype).
Created: 29 Apr 2016, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 29 Apr 2016, 11:44 a.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
OMIM
604579
Clinvar variants
Variants in FZD4
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FZD4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FZD4 was added to Cataractspanel. Sources: UKGTN