Activity
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7 actions
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| Fetal anomalies v5.78 | SCYL2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SCYL2. Tag Q1_25_ promote_green was removed from gene: SCYL2. |
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| Fetal anomalies v5.78 | SCYL2 | Achchuthan Shanmugasundram edited their review of gene: SCYL2: 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 | SCYL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | SCYL2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SCYL2. Tag Q1_25_ promote_green tag was added to gene: SCYL2. |
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| Fetal anomalies v5.16 | SCYL2 | Achchuthan Shanmugasundram commented on gene: SCYL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SCYL2 | Soo-Mi Park reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39138116, 39169672; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM#618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SCYL2 |
Achchuthan Shanmugasundram gene: SCYL2 was added gene: SCYL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 39138116; 39169672 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766 |
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