Activity
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| Fetal anomalies v4.193 | ERGIC1 | Arina Puzriakova Tag gene-checked tag was added to gene: ERGIC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ERGIC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERGIC1. Tag Q3_24_NHS_review was removed from gene: ERGIC1. |
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| Fetal anomalies v4.192 | ERGIC1 | Achchuthan Shanmugasundram edited their review of gene: ERGIC1: 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 | ERGIC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.55 | ERGIC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERGIC1. Tag Q3_24_NHS_review tag was added to gene: ERGIC1. |
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| Fetal anomalies v4.36 | ERGIC1 | Achchuthan Shanmugasundram commented on gene: ERGIC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ERGIC1 | Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ERGIC1 |
Achchuthan Shanmugasundram gene: ERGIC1 was added gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256 Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100 |
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