Activity
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9 actions
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| Fetal anomalies v4.192 | ZNF462 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF462. Tag Q3_24_NHS_review was removed from gene: ZNF462. |
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| Fetal anomalies v4.192 | ZNF462 | Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | ZNF462 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.109 | ZNF462 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF462. Tag Q3_24_NHS_review tag was added to gene: ZNF462. |
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| Fetal anomalies v4.36 | ZNF462 | Achchuthan Shanmugasundram commented on gene: ZNF462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNF462 | Natalie Bibb reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ZNF462 |
Achchuthan Shanmugasundram Source NHS GMS was added to ZNF462. Mode of inheritance for gene ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Weiss-Kruszka syndrome, OMIM:618619 for gene: ZNF462 Publications for gene: ZNF462 were updated from to 28513610; 31361404 |
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| Fetal anomalies v0.9 | ZNF462 | Rebecca Foulger reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ZNF462 |
Rebecca Foulger gene: ZNF462 was added gene: ZNF462 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
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