Activity
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| Fetal anomalies v4.192 | GTPBP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GTPBP2. Tag Q3_24_NHS_review was removed from gene: GTPBP2. |
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| Fetal anomalies v4.192 | GTPBP2 | Achchuthan Shanmugasundram edited their review of gene: GTPBP2: 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 | GTPBP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.60 | GTPBP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GTPBP2. Tag Q3_24_NHS_review tag was added to gene: GTPBP2. |
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| Fetal anomalies v4.36 | GTPBP2 | Achchuthan Shanmugasundram commented on gene: GTPBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GTPBP2 | Esther Kinning reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29449720, 30790272, 26675814; Phenotypes: Jaberi-Elahi syndrome, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | GTPBP2 |
Achchuthan Shanmugasundram gene: GTPBP2 was added gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988 |
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