Activity
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7 actions
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| Fetal anomalies v4.192 | SPEN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPEN. Tag Q3_24_NHS_review was removed from gene: SPEN. |
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| Fetal anomalies v4.192 | SPEN | Achchuthan Shanmugasundram edited their review of gene: SPEN: 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 | SPEN |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.97 | SPEN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPEN. Tag Q3_24_NHS_review tag was added to gene: SPEN. |
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| Fetal anomalies v4.36 | SPEN | Achchuthan Shanmugasundram commented on gene: SPEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPEN | Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | SPEN |
Achchuthan Shanmugasundram gene: SPEN was added gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPEN were set to 33596411 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312 |
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