Activity
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8 actions
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| Fetal anomalies v5.16 | FZD5 | Achchuthan Shanmugasundram commented on gene: FZD5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | FZD5 | Natalie Bibb reviewed gene: FZD5: Rating: RED; Mode of pathogenicity: ; Publications: 32737437, 36695497, 26908622, 33633439; Phenotypes: Microphthalmia/coloboma 11, MIM#620731; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | FZD5 |
Achchuthan Shanmugasundram Source NHS GMS was added to FZD5. Source Expert Review Red was added to FZD5. Mode of inheritance for gene FZD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD5 were updated from to 33633439; 36695497; 32737437; 26908622 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v3.147 | 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.147 | FZD5 | Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FZD5 | Rebecca Foulger commented on gene: FZD5: DDG2P rating in original PAGE list: Probable for Autosomal Dominant Coloboma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FZD5 | Rebecca Foulger reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FZD5 |
Rebecca Foulger gene: FZD5 was added gene: FZD5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma |
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