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| Early onset or syndromic epilepsy v2.500 | ISCA-37478-Gain | Eleanor Williams commented on Region: ISCA-37478-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37478-Gain |
Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728. Haploinsufficiency Score for ISCA-37478-Gain was changed from None to . Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.249 | ISCA-37478-Gain |
Rebecca Foulger Haploinsufficiency Score for ISCA-37478-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37478-Gain. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37478-Gain | Rebecca Foulger commented on Region: ISCA-37478-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37478-Gain |
Louise Daugherty Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540 Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems |
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