Activity
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9 actions
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| Fetal anomalies v6.169 | RNU12 | Arina Puzriakova Tag gene-checked was removed from gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.194 | RNU12 |
Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. Tag gene-checked tag was added to gene: RNU12. |
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| Fetal anomalies v4.192 | RNU12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNU12. Tag Q3_24_NHS_review was removed from gene: RNU12. |
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| Fetal anomalies v4.192 | RNU12 | Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | RNU12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.89 | RNU12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNU12. Tag Q3_24_NHS_review tag was added to gene: RNU12. |
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| Fetal anomalies v4.36 | RNU12 | Achchuthan Shanmugasundram commented on gene: RNU12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RNU12 | Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 34085356 Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116 |
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