Activity
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10 actions
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| Fetal anomalies v5.78 | WASHC5 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WASHC5. Tag Q1_25_ promote_green was removed from gene: WASHC5. |
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| Fetal anomalies v5.78 | WASHC5 | Achchuthan Shanmugasundram edited their review of gene: WASHC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | WASHC5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WASHC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | WASHC5 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WASHC5. Tag Q1_25_ promote_green tag was added to gene: WASHC5. |
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| Fetal anomalies v5.72 | WASHC5 | Achchuthan Shanmugasundram Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Ritscher-Schinzel syndrome 1, OMIM:220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, OMIM:220210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | WASHC5 | Achchuthan Shanmugasundram commented on gene: WASHC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | WASHC5 | Vicki Harrison reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: Ritscher-Schinzel syndrome 1, MIM#220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | WASHC5 |
Achchuthan Shanmugasundram Source NHS GMS was added to WASHC5. Source Expert Review Amber was added to WASHC5. Added phenotypes Ritscher-Schinzel syndrome 1, OMIM:220210 for gene: WASHC5 Publications for gene: WASHC5 were updated from to 24065355 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.9 | WASHC5 | Rebecca Foulger reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WASHC5 |
Rebecca Foulger gene: WASHC5 was added gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210 |
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