Activity
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8 actions
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| Fetal anomalies v4.193 | DYNC1I1 | Arina Puzriakova Tag gene-checked tag was added to gene: DYNC1I1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DYNC1I1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I1. Tag Q3_24_NHS_review was removed from gene: DYNC1I1. |
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| Fetal anomalies v4.192 | DYNC1I1 | Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set 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 | DYNC1I1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.51 | DYNC1I1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I1. Tag Q3_24_NHS_review tag was added to gene: DYNC1I1. |
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| Fetal anomalies v4.36 | DYNC1I1 | Achchuthan Shanmugasundram commented on gene: DYNC1I1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DYNC1I1 | Anna de Burca reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32219838, 25231166, 22914741; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | DYNC1I1 |
Achchuthan Shanmugasundram gene: DYNC1I1 was added gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741 Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM) |
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