Activity
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7 actions
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| Fetal anomalies v5.78 | NUDT2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NUDT2. Tag Q1_25_ promote_green was removed from gene: NUDT2. |
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| Fetal anomalies v5.78 | NUDT2 | Achchuthan Shanmugasundram edited their review of gene: NUDT2: 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 v5.77 | NUDT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUDT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | NUDT2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NUDT2. Tag Q1_25_ promote_green tag was added to gene: NUDT2. |
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| Fetal anomalies v5.16 | NUDT2 | Achchuthan Shanmugasundram commented on gene: NUDT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | NUDT2 | Samantha Doyle reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141063; Phenotypes: Intellectual developmental disorder with or without peripheral neuropathy, MIM#619844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | NUDT2 |
Achchuthan Shanmugasundram gene: NUDT2 was added gene: NUDT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 38141063 Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844 |
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