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| Structural eye disease v3.76 | FZD5 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.76 | FZD5 | Arina Puzriakova Phenotypes for gene: FZD5 were changed from Coloboma, None to Microphthalmia/coloboma 11, OMIM:620731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.75 | FZD5 | Arina Puzriakova Tag gene-checked was removed from gene: FZD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.122 | FZD5 | Arina Puzriakova Tag gene-checked tag was added to gene: FZD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | FZD5 |
Ivone Leong Tag for-review was removed from gene: FZD5. Tag Q1_22_NHS_review was removed from gene: FZD5. |
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| Structural eye disease v1.113 | FZD5 | Ivone Leong commented on gene: FZD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | FZD5 |
Ivone Leong Source Expert Review Green was added to FZD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.108 | FZD5 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: FZD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | FZD5 | Nicola Ragge edited their review of gene: FZD5: Added comment: 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.; Changed publications to: 32737437, 26908622; Changed phenotypes to: None, Coloboma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.35 | FZD5 | Ivone Leong commented on gene: FZD5: This gene should be promoted from Amber to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.35 | FZD5 | Ivone Leong Publications for gene: FZD5 were set to 26908622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.34 | FZD5 | Ivone Leong Tag for-review tag was added to gene: FZD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | FZD5 | Nicola Ragge edited their review of gene: FZD5: Added comment: 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.; Changed rating: GREEN; Changed publications: 26908622, 32737437; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | FZD5 | Nicola Ragge reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: Liu et al 2016 PMID: 26908622; Phenotypes: Coloboma, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FZD5 | Ivone Leong edited their review of gene: FZD5: Changed phenotypes: Coloboma, None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FZD5 | Ivone Leong reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 26908622; Phenotypes: Galactokinase deficiency with cataracts, 230200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FZD5 |
Ivone Leong 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 |
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