Structural eye disease
Gene: FZD5Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)Created: 3 Apr 2024, 11:13 a.m. | Last Modified: 3 Apr 2024, 11:13 a.m.
Panel Version: 3.76
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 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
None; Coloboma
Publications
Variants in this GENE are reported as part of current diagnostic practice
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
This gene should be promoted from Amber to Green at the next review.Created: 20 Jan 2021, 10:42 a.m. | Last Modified: 20 Jan 2021, 10:42 a.m.
Panel Version: 1.35
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). 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: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coloboma; None
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FZD5 were changed from Coloboma, None to Microphthalmia/coloboma 11, OMIM:620731
Tag gene-checked was removed from gene: FZD5.
Tag gene-checked tag was added to gene: FZD5.
Tag for-review was removed from gene: FZD5. Tag Q1_22_NHS_review was removed from gene: FZD5.
Source Expert Review Green was added to FZD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: FZD5.
Publications for gene: FZD5 were set to 26908622
Tag for-review tag was added to gene: FZD5.
gene: FZD5 was added gene: FZD5 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD5 were set to 26908622 Phenotypes for gene: FZD5 were set to Coloboma, None