| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v1.22 | POLG | Zornitza Stark Classified gene: POLG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.22 | POLG | Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.19 | POLG | Bryony Thompson Marked gene: POLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.19 | POLG | Bryony Thompson Gene: polg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.19 | POLG | Bryony Thompson Classified gene: POLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.19 | POLG | Bryony Thompson Gene: polg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.14 | POLG |
Lynn Tan gene: POLG was added gene: POLG was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLG were set to 15477547; 14694057; 16638794 Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4a MONDO:0008758 Review for gene: POLG was set to AMBER gene: POLG was marked as current diagnostic Added comment: PMID: 15477547 5 patients with "cognitive impairment" in their 30s-50s, one male "had mild cognitive decline in the fifth decade". PMID: 14694057 Biallelic POLG A467T variants: The 18-year-old patient is the elder son of nonconsanguineous parents, aged 45 and 41 years. The clinical features of myoclonus, seizure, axonal sensory ataxic neuropathy, and hepatotoxicity induced by valproate and mild cognitive decline and cardiomyopathy were indicative of a multisystem disorder and suggestive of mitochondrial disease. PMID: 16638794 We studied 26 patients belonging to 20 families with a disorder caused by biallelic mutations in the POLG gene. Mild cognitive abnormalities were clinically suspected in eight patients. In four a mild cognitive impairment was confirmed by neuropsychological examination. Cognitive impairment -developmental delay/regression/ID in childhood vs dementia (and decline from a baseline) later in life Sources: Literature |
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