Activity
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9 actions
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| Likely inborn error of metabolism v8.78 | GUK1 | Achchuthan Shanmugasundram Classified gene: GUK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.78 | GUK1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with mitochondrial DNA depletion syndrome 21. As this gene has already been recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/GUK1/), this gene should also be considered for green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.78 | GUK1 | Achchuthan Shanmugasundram Gene: guk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.77 | GUK1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 28 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.77 | GUK1 | Achchuthan Shanmugasundram Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome 21, OMIM:621071 to Mitochondrial DNA depletion syndrome 21, OMIM:621071; mitochondrial dna depletion syndrome 21, MONDO:0976132 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.76 | GUK1 | Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: GUK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.76 | GUK1 | Achchuthan Shanmugasundram reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, OMIM:621071, mitochondrial dna depletion syndrome 21, MONDO:0976132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.76 | GUK1 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.76 | GUK1 |
Achchuthan Shanmugasundram gene: GUK1 was added gene: GUK1 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: GUK1. Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21, OMIM:621071 |
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