Activity
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| Fetal anomalies v4.192 | COA7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COA7. Tag Q3_24_NHS_review was removed from gene: COA7. |
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| Fetal anomalies v4.192 | COA7 | Achchuthan Shanmugasundram edited their review of gene: COA7: 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 | COA7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.48 | COA7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COA7. Tag Q3_24_NHS_review tag was added to gene: COA7. |
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| Fetal anomalies v4.36 | COA7 | Achchuthan Shanmugasundram commented on gene: COA7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COA7 | Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | COA7 |
Achchuthan Shanmugasundram gene: COA7 was added gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387 |
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