Activity
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7 actions
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| Fetal anomalies v5.78 | RPL13 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RPL13. Tag Q1_25_ promote_green was removed from gene: RPL13. |
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| Fetal anomalies v5.78 | RPL13 | Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | RPL13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPL13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | RPL13 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RPL13. Tag Q1_25_ promote_green tag was added to gene: RPL13. |
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| Fetal anomalies v5.16 | RPL13 | Achchuthan Shanmugasundram commented on gene: RPL13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | RPL13 | Soo-Mi Park reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, MIM#618728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | RPL13 |
Achchuthan Shanmugasundram gene: RPL13 was added gene: RPL13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728 |
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