Activity
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7 actions
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| Fetal anomalies v4.192 | EXOC7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC7. Tag Q3_24_NHS_review was removed from gene: EXOC7. |
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| Fetal anomalies v4.192 | EXOC7 | Achchuthan Shanmugasundram edited their review of gene: EXOC7: 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 | EXOC7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.55 | EXOC7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EXOC7. Tag Q3_24_NHS_review tag was added to gene: EXOC7. |
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| Fetal anomalies v4.36 | EXOC7 | Achchuthan Shanmugasundram commented on gene: EXOC7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EXOC7 | Anna de Burca reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | EXOC7 |
Achchuthan Shanmugasundram gene: EXOC7 was added gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC7 were set to 32103185 Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072 |
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