Activity
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7 actions
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| Fetal anomalies v5.78 | INTS11 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: INTS11. Tag Q1_25_ promote_green was removed from gene: INTS11. |
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| Fetal anomalies v5.78 | INTS11 | Achchuthan Shanmugasundram edited their review of gene: INTS11: 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 | INTS11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to INTS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | INTS11 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: INTS11. Tag Q1_25_ promote_green tag was added to gene: INTS11. |
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| Fetal anomalies v5.16 | INTS11 | Achchuthan Shanmugasundram commented on gene: INTS11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | INTS11 | Natalie Canham reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39030370, 37054711; Phenotypes: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM#620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | INTS11 |
Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 39030370 Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 |
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