Activity
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| Fetal anomalies v4.192 | PTPN23 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PTPN23. Tag Q3_24_NHS_review was removed from gene: PTPN23. |
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| Fetal anomalies v4.192 | PTPN23 | Achchuthan Shanmugasundram edited their review of gene: PTPN23: 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 | PTPN23 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.84 | PTPN23 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTPN23. Tag Q3_24_NHS_review tag was added to gene: PTPN23. |
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| Fetal anomalies v4.36 | PTPN23 | Achchuthan Shanmugasundram commented on gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PTPN23 | Esther Kinning reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899372, 29090338, 25558065, 31395947, 27848944; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PTPN23 |
Achchuthan Shanmugasundram gene: PTPN23 was added gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890 |
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