| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2626 | PEX3 | Zornitza Stark Marked gene: PEX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2626 | PEX3 | Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2626 | PEX3 | Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2625 | PEX3 | Zornitza Stark Publications for gene: PEX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2624 | PEX3 | Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | PEX13 |
Lauren Rogers gene: PEX13 was added gene: PEX13 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 19449432; 37962062; 34055681; 37962062; 30919572; 33547378; 35854306 Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) Review for gene: PEX13 was set to GREEN Added comment: PMID: 19449432: 2x unrelated Saudi children of consanguineous parents with Zellweger syndrome. Both children had seizures alongside other features of Zellweger and died young. One patient had a homozygous deletion (147,308 bp) encompassing the entire PEX3 gene and the other had a homozygous p.(G36DfsX61) variant. PMID: 37962062: A consanguineous patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. They had a homozygous p.(Ala165Pro) variant and died at 14 months. PMID: 34055681: An individual with global developmental delay, focal seizures, peritrigonal white matter disease and thinning corpus callosum with a homozygous p.(Met1Val) variant. PMID: 37962062: 1x individual with hypotonia, seizures, developmental delay and suspicious abnormal signal in the bilateral basal ganglia with a homozygous p.(A165P) variant. PMID: 30919572: 1x individual with developmental delay and seizures, cerebral atrophy and white matter volume loss. Homozygous for a p.(G23R) variant. PMID: 33547378: 1x individual with a homozygous p.(K177del) variant with motor regression, seizure at 2 months, digestive problems, hypotonia, hypodontia, abnormal white matter and demyelination. PMID: 35854306: 1x individual with a homozygous p.(W313*) variant with phycomotor delay, motor impairments, intellectual disability, language impairment and seizures, cortical malformations. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.0 | PEX3 |
Zornitza Stark gene: PEX3 was added gene: PEX3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||