| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2129 | PEX26 | Zornitza Stark Marked gene: PEX26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2129 | PEX26 | Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2129 | PEX26 | Zornitza Stark Classified gene: PEX26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2129 | PEX26 | Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2128 | PEX26 | Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2128 | PEX2 | Zornitza Stark Marked gene: PEX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2128 | PEX2 | Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2128 | PEX2 | Zornitza Stark Classified gene: PEX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2128 | PEX2 | Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2127 | PEX2 | Zornitza Stark Classified gene: PEX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2127 | PEX2 | Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2126 | PEX2 | Zornitza Stark reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2114 | PEX26 |
Lisa Norbart gene: PEX26 was added gene: PEX26 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX26 were set to 34430430; 28823628 Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872 Review for gene: PEX26 was set to AMBER Added comment: PMID: 34430430 (2021) - Case report on 1 infant with a homozygous frameshift variant and Zellweger Syndrome diagnosis. Presented with an epileptic seizure at 8 months old and focal seizures during sleep, died at 9 months old. Also described a literature review resulting in 1/4 previously reported infants with Zellweger Syndrome presenting with seizures, described below. PMID: 28823628 (2017) - Case report on 1 infant with a homozygous missense variant and Zellweger Syndrome diagnosis. Developed tonic-clonic jerking of extremities. GeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects). Sources: Literature |
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| Genetic Epilepsy v0.2114 | PEX2 |
Lisa Norbart gene: PEX2 was added gene: PEX2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 14630978; 23430938; 17041890 Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Review for gene: PEX2 was set to AMBER Added comment: PMID: 14630978 (2004) - 3 individuals with homozygous missense mutations and diagnosed with Zellweger syndrome. 1/3 presented with generalised seizures for which treatment was not effective. 2/3 had no seizures. PMID: 23430938 (2012) - 1 individual with compound heterozygous nonsense mutations affected with mild Zellweger Syndrome, did not present with seizures. PMID: 17041890 (2006) - 3/3 individuals with homozygous PEX2 nonsense/frameshift variants affected with Zellweger Syndrome. 2/3 presented with seizures, died at <6 months old. GeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects). Sources: Literature |
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