Activity
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9 actions
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| Fetal anomalies v6.177 | HECTD4 | Ida Ertmanska Tag gene-checked was removed from gene: HECTD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.80 | HECTD4 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | HECTD4 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: HECTD4. Tag Q1_25_ promote_green was removed from gene: HECTD4. |
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| Fetal anomalies v5.78 | HECTD4 | Achchuthan Shanmugasundram edited their review of gene: HECTD4: 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 | HECTD4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HECTD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | HECTD4 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: HECTD4. Tag Q1_25_ promote_green tag was added to gene: HECTD4. |
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| Fetal anomalies v5.16 | HECTD4 | Achchuthan Shanmugasundram commented on gene: HECTD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | HECTD4 | Natalie Canham reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM#620250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | HECTD4 |
Achchuthan Shanmugasundram gene: HECTD4 was added gene: HECTD4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 |
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