Ocular colobomaGene: FZD5
Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM.
This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green:
"Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN...
Created: 19 Jun 2019, 3:32 p.m."
There is enough evidence for this gene to be Green.
Created: 17 Mar 2021, 4:56 p.m. | Last Modified: 17 Mar 2021, 4:56 p.m.
Panel Version: 1.43
Gene: fzd5 has been classified as Green List (High Evidence).
gene: FZD5 was added gene: FZD5 was added to Ocular coloboma. Sources: Literature Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD5 were set to 32737437; 26908622 Phenotypes for gene: FZD5 were set to Coloboma Review for gene: FZD5 was set to GREEN gene: FZD5 was marked as current diagnostic