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| Early onset or syndromic epilepsy v1.191 | SMARCA2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to SMARCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | SMARCA2 | Rebecca Foulger Source NHS GMS was added to SMARCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | SMARCA2 | Tracy Lester reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22426308, 27665729; Phenotypes: Nicolaides-Baraitser syndrome, 601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.668 | SMARCA2 | Sarah Leigh Marked gene: SMARCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.668 | SMARCA2 | Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.668 | SMARCA2 | Sarah Leigh Classified gene: SMARCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.668 | SMARCA2 | Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.667 | SMARCA2 |
Sarah Leigh gene: SMARCA2 was added gene: SMARCA2 was added to Genetic Epilepsy Syndromes. Sources: Expert list Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22366787 Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome 601358 Review for gene: SMARCA2 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. In PMID 22366787 22/35 Nicolaides-Baraitser syndrome cases with SMARCA2 variant had seizures as part of their phenotype. Gene provided by Ian Berry, Leeds Sources: Expert list |
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