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| Genetic Epilepsy v0.2030 | B3GALNT2 | Zornitza Stark Marked gene: B3GALNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2030 | B3GALNT2 | Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2030 | B3GALNT2 | Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2030 | B3GALNT2 | Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2028 | B3GALNT2 |
Lilian Downie gene: B3GALNT2 was added gene: B3GALNT2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to PMID: 29791932, PMID: 29273094, PMID: 35127920 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Review for gene: B3GALNT2 was set to GREEN Added comment: Severe congenital muscular dystrophy and ID phenotype. Seizures not consistent feature with early phenotypic reports PMID: 29791932 epileptic encephalopathy PMID: 29273094 5 individuals with ID and seizures from single large consanguineous family but they had no or mild muscle symptoms so quite different from previously reported phenotype PMID: 35127920 not a great article but does have a table summarising the previous cases and 9/21 had seizures. Sources: Expert list |
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