Activity
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7 actions
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| Fetal anomalies v5.78 | NSUN6 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NSUN6. Tag Q1_25_ promote_green was removed from gene: NSUN6. |
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| Fetal anomalies v5.78 | NSUN6 | Achchuthan Shanmugasundram edited their review of gene: NSUN6: 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 | NSUN6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | NSUN6 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NSUN6. Tag Q1_25_ promote_green tag was added to gene: NSUN6. |
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| Fetal anomalies v5.16 | NSUN6 | Achchuthan Shanmugasundram commented on gene: NSUN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | NSUN6 | Samantha Doyle reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 37226891; Phenotypes: Intellectual developmental disorder, autosomal recessive 82, MIM#620779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | NSUN6 |
Achchuthan Shanmugasundram gene: NSUN6 was added gene: NSUN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN6 were set to 37226891 Phenotypes for gene: NSUN6 were set to Intellectual developmental disorder, autosomal recessive 82, OMIM:620779 |
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