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| Genetic Epilepsy v0.2248 | POMGNT2 | Zornitza Stark Marked gene: POMGNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2248 | POMGNT2 | Zornitza Stark Gene: pomgnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2248 | POMGNT2 | Zornitza Stark Classified gene: POMGNT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2248 | POMGNT2 | Zornitza Stark Gene: pomgnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2247 | POMGNT2 | Zornitza Stark reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | POMGNT2 |
Chris Ciotta gene: POMGNT2 was added gene: POMGNT2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to PMID: 36808730 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 Review for gene: POMGNT2 was set to RED Added comment: This gene was included in the Genes4Epilepsy (PMID: 36808730) Gene resource and was said to be associated with developmental and epileptic encephalopathies and malformations of cortical development. In a review of the literature an association with individuals presenting with epilepsy was not found. Sources: Literature |
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