Activity
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8 actions
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| Fetal anomalies v5.78 | ACBD6 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ACBD6. Tag Q1_25_ promote_green was removed from gene: ACBD6. |
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| Fetal anomalies v5.78 | ACBD6 | Achchuthan Shanmugasundram edited their review of gene: ACBD6: 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 | ACBD6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACBD6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | ACBD6 | Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ACBD6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.73 | ACBD6 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ACBD6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | ACBD6 | Achchuthan Shanmugasundram commented on gene: ACBD6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | ACBD6 | Alice Gardham reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 36457943, 34296759, 37951597; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM#620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | ACBD6 |
Achchuthan Shanmugasundram gene: ACBD6 was added gene: ACBD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 37951597; 36457943; 34296759 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 |
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