Activity
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| Fetal anomalies v4.192 | PAX1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PAX1. Tag Q3_24_NHS_review was removed from gene: PAX1. |
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| Fetal anomalies v4.192 | PAX1 | Achchuthan Shanmugasundram edited their review of gene: PAX1: 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 | PAX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.78 | PAX1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PAX1. Tag Q3_24_NHS_review tag was added to gene: PAX1. |
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| Fetal anomalies v4.36 | PAX1 | Achchuthan Shanmugasundram commented on gene: PAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PAX1 | Natalie Chandler reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 29681087, 32111619; Phenotypes: Otofaciocervical syndrome 2, OMIM:615560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PAX1 |
Achchuthan Shanmugasundram gene: PAX1 was added gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 23851939; 29681087; 32111619 Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560 |
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