Activity
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7 actions
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| Fetal anomalies v5.78 | SLC4A10 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC4A10. Tag Q1_25_ promote_green was removed from gene: SLC4A10. |
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| Fetal anomalies v5.78 | SLC4A10 | Achchuthan Shanmugasundram edited their review of gene: SLC4A10: 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 | SLC4A10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC4A10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | SLC4A10 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC4A10. Tag Q1_25_ promote_green tag was added to gene: SLC4A10. |
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| Fetal anomalies v5.16 | SLC4A10 | Achchuthan Shanmugasundram commented on gene: SLC4A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SLC4A10 | Stephanie Allen reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 37459438, 38054405; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM#620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SLC4A10 |
Achchuthan Shanmugasundram gene: SLC4A10 was added gene: SLC4A10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 38054405; 37459438; 31130284 Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
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