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| Genetic Epilepsy v0.2327 | ALDH3A2 | Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1956 | ALDH3A2 | Zornitza Stark Marked gene: ALDH3A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1956 | ALDH3A2 | Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1956 | ALDH3A2 | Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome, MIM# 270200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1955 | ALDH3A2 | Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1955 | ALDH3A2 | Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ALDH3A2 | John Coleman edited their review of gene: ALDH3A2: Changed rating: GREEN; Changed phenotypes: Epilepsy, Seizures, Generalized Tonic Clonic Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ALDH3A2 |
John Coleman changed review comment from: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders. Sources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, Ichthyosis, Mendeliome, leukodystrophy, and metabolic disorders. Sources: Expert Review, Literature |
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| Genetic Epilepsy v0.1950 | ALDH3A2 |
John Coleman changed review comment from: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC Sources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders. Sources: Expert Review, Literature |
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| Genetic Epilepsy v0.1950 | ALDH3A2 |
John Coleman gene: ALDH3A2 was added gene: ALDH3A2 was added to Genetic Epilepsy. Sources: Expert Review,Literature Mode of inheritance for gene: ALDH3A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to (PMID:32021380,30372562 Added comment: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC Sources: Expert Review, Literature |
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