Activity
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17 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 | INTS13 | Achchuthan Shanmugasundram commented on gene: INTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | INTS11 | Achchuthan Shanmugasundram commented on gene: INTS11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | INTS13 | Natalie Canham reviewed gene: INTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: 36229431; Phenotypes: Oral-facial-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | INTS13 |
Achchuthan Shanmugasundram gene: INTS13 was added gene: INTS13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to 36229431 Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375 |
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| 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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| Fetal anomalies v4.192 | INTS1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: INTS1. Tag Q3_24_NHS_review was removed from gene: INTS1. |
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| Fetal anomalies v4.192 | INTS1 | Achchuthan Shanmugasundram edited their review of gene: INTS1: 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 v4.191 | INTS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.65 | INTS1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: INTS1. Tag Q3_24_NHS_review tag was added to gene: INTS1. |
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| Fetal anomalies v4.36 | INTS1 | Achchuthan Shanmugasundram commented on gene: INTS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | INTS1 | Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | INTS1 |
Achchuthan Shanmugasundram gene: INTS1 was added gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 31428919; 30622326 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857 |
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