Activity
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11 actions
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| Likely inborn error of metabolism v8.94 | SPATA5 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: SPATA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | SPATA5 | Achchuthan Shanmugasundram commented on gene: SPATA5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | SPATA5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPATA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.48 | SPATA5 | Achchuthan Shanmugasundram Classified gene: SPATA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.48 | SPATA5 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: SPATA5 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SPATA5/) as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.48 | SPATA5 | Achchuthan Shanmugasundram Gene: spata5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.47 | SPATA5 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SPATA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.47 | SPATA5 | Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.47 | SPATA5 | Achchuthan Shanmugasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.47 | SPATA5 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.47 | SPATA5 |
Achchuthan Shanmugasundram gene: SPATA5 was added gene: SPATA5 was added to Likely inborn error of metabolism. Sources: Expert Review Green,NHS GMS,Literature new-gene-name tags were added to gene: SPATA5. Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366; 28293831; 30009132; 36849973 Phenotypes for gene: SPATA5 were set to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Penetrance for gene: SPATA5 were set to Complete |
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