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| Early onset or syndromic epilepsy v2.500 | ISCA-46295-Loss | Ivone Leong commented on Region: ISCA-46295-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-46295-Loss |
Arina Puzriakova GRCh38 position for ISCA-46295-Loss was changed from 31727418-32153205 to 31727418-32153204. Triplosensitivity Score for ISCA-46295-Loss was changed from None to . Required Overlap Percentage for ISCA-46295-Loss was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v2.119 | OTUD7A |
Sarah Leigh gene: OTUD7A was added gene: OTUD7A was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074 Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, intellectual disability Review for gene: OTUD7A was set to RED Added comment: Not associated with phenotype in OMIM or in Gen2Phen, Although the region ISCA-46295-Loss, which encompasses the OTUD7A locus, is associated with seizures 20236110, mental retardation 22775350, dysmorphic features, developmental delay and severe epileptic encephalopathy. PMID 31997314 report a homozygous variant in a case of severe global developmental delay, language impairment and epileptic encephalopathy; segregation and functional studies support this gene disease association. Sources: Literature |
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| Early onset or syndromic epilepsy v1.240 | ISCA-46295-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-46295-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-46295-Loss. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-46295-Loss | Rebecca Foulger commented on Region: ISCA-46295-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-46295-Loss |
Louise Daugherty Region: ISCA-46295-Loss was added Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350 Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy |
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