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| Early onset or syndromic epilepsy v2.500 | ISCA-37493-Loss | Arina Puzriakova commented on Region: ISCA-37493-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37493-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37493-Loss was changed from None to . Required Overlap Percentage for ISCA-37493-Loss was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.251 | ISCA-37493-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37493-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37493-Loss. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37493-Loss | Rebecca Foulger reviewed Region: ISCA-37493-Loss: Rating: ; Mode of pathogenicity: None; Publications: 28283832; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37493-Loss |
Louise Daugherty Region: ISCA-37493-Loss was added Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713 Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum |
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