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| Genetic Epilepsy v0.1535 | LIG3 | Zornitza Stark Phenotypes for gene: LIG3 were changed from mitochondrial neurogastrointestinal encephalomyopathy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1534 | LIG3 | Zornitza Stark reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1348 | LIG3 | Zornitza Stark Marked gene: LIG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1348 | LIG3 | Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1348 | LIG3 | Zornitza Stark Classified gene: LIG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1348 | LIG3 | Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | LIG3 |
Ain Roesley gene: LIG3 was added gene: LIG3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to 33855352 Phenotypes for gene: LIG3 were set to mitochondrial neurogastrointestinal encephalomyopathy Penetrance for gene: LIG3 were set to Complete Review for gene: LIG3 was set to GREEN gene: LIG3 was marked as current diagnostic Added comment: 7 affecteds from 3 families All had severe dysmotility of the gut, leukoencephalopathy and/or progressive cortical atrophy and 1 family with cerebellar atrophy All had epilepsy, stroke-like episodes, migraine and developmental delay, reminiscent of MELAS. 4 missense (K537N led to splicing defects) and 2 nonsense molecular defects demonstrated on patients' fibroblasts KO models done on zebrafish Sources: Literature |
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