Activity
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| Fetal anomalies v4.192 | FRA10AC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1. Tag Q3_24_NHS_review was removed from gene: FRA10AC1. |
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| Fetal anomalies v4.192 | FRA10AC1 | Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: 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 | FRA10AC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.56 | FRA10AC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1. Tag Q3_24_NHS_review tag was added to gene: FRA10AC1. |
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| Fetal anomalies v4.36 | FRA10AC1 | Achchuthan Shanmugasundram commented on gene: FRA10AC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FRA10AC1 | Anna de Burca reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34694367; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 |
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