Activity
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8 actions
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| Mendeliome v1.2271 | GUK1 | Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2270 | GUK1 | Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2175 | GUK1 | Bryony Thompson Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158 to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2174 | GUK1 | Bryony Thompson Marked gene: GUK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2174 | GUK1 | Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2174 | GUK1 | Bryony Thompson Classified gene: GUK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2174 | GUK1 | Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2173 | GUK1 |
Bryony Thompson gene: GUK1 was added gene: GUK1 was added to Mendeliome. Sources: Literature 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 MONDO:0018158 Review for gene: GUK1 was set to GREEN Added comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. Sources: Literature |
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