Activity
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| Fetal anomalies v4.192 | MED27 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED27. Tag Q3_24_NHS_review was removed from gene: MED27. |
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| Fetal anomalies v4.192 | MED27 | Achchuthan Shanmugasundram edited their review of gene: MED27: 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 | MED27 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.74 | MED27 | Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.73 | MED27 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED27. Tag Q3_24_NHS_review tag was added to gene: MED27. |
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| Fetal anomalies v4.36 | MED27 | Achchuthan Shanmugasundram commented on gene: MED27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MED27 | Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | MED27 |
Achchuthan Shanmugasundram gene: MED27 was added gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 |
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