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| Genetic Epilepsy v0.1292 | PNPT1 | Zornitza Stark Marked gene: PNPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1292 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1292 | PNPT1 | Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM# 614932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1291 | PNPT1 | Zornitza Stark Classified gene: PNPT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1291 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1290 | PNPT1 | Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM# 614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | PNPT1 |
Ain Roesley gene: PNPT1 was added gene: PNPT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 33158637; 31752325 Penetrance for gene: PNPT1 were set to unknown Review for gene: PNPT1 was set to GREEN Added comment: PMID:33158637 1x homozygous (c.1399C > T, p.Pro467Ser) in an individual who presented with a phenotype similar to Aicardi-Goutieres Syndrome. She presented with feeding difficulties and vomiting, muscle weakness, and hyperexcitability, accompanied by a sterile febrile episode. Later developed refractory focal impaired awareness and pharmaco-refractory generalized seizures. PMID: 31752325 7 presented with seizures (out of 21 for whom clinical info was available) Sources: Literature |
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