Activity
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7 actions
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| Fetal anomalies v5.78 | ERI1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ERI1. Tag Q1_25_ promote_green was removed from gene: ERI1. |
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| Fetal anomalies v5.78 | ERI1 | Achchuthan Shanmugasundram edited their review of gene: ERI1: 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 v5.77 | ERI1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | ERI1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ERI1. Tag Q1_25_ promote_green tag was added to gene: ERI1. |
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| Fetal anomalies v5.16 | ERI1 | Achchuthan Shanmugasundram commented on gene: ERI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | ERI1 | Natalie Chandler reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37352860, 36208065, 33942433, 28488351; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Campeau type, MIM#620663, Hoxha-Aliu syndrome, MIM#620662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | ERI1 |
Achchuthan Shanmugasundram gene: ERI1 was added gene: ERI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 36208065; 37352860; 28488351; 33942433 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663; Hoxha-Aliu syndrome, OMIM:620662 |
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