Activity
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9 actions
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| Mitochondrial disorders v9.36 | GUK1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype last accessed on 28 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.36 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.26 | GUK1 | Arina Puzriakova Classified gene: GUK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.26 | GUK1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 4 individuals from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Muscle biopsies showed mtDNA depletion and/or deletions and reduced activities of mitochondrial respiratory chain enzymes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.26 | GUK1 | Arina Puzriakova Gene: guk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.25 | GUK1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GUK1. Tag Q3_25_NHS_review tag was added to gene: GUK1. |
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| Mitochondrial disorders v9.25 | GUK1 | Arina Puzriakova Publications for gene: GUK1 were set to PMID: 39230499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.24 | GUK1 | Arina Puzriakova Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome 21 to Mitochondrial DNA depletion syndrome 21, OMIM:621071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.19 | GUK1 |
Hannah Knight gene: GUK1 was added gene: GUK1 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to PMID: 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21 Review for gene: GUK1 was set to GREEN Added comment: Four patients from three families reported with mitochondrial disorders and biallelic GUK1 variants. Different variants in all three families. Key symptoms include ptosis, ophthalmoparesis, and myopathic proximal limb weakness, as well as variable hepatopathy Sources: Literature |
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