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Early onset or syndromic epilepsy v3.32 | ISCA-37429-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.500 | ISCA-37429-Loss | Arina Puzriakova commented on Region: ISCA-37429-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.500 | ISCA-37429-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37429-Loss was changed from None to . Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60. |
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Early onset or syndromic epilepsy v1.353 | ISCA-37429-Loss | Rebecca Foulger changed review comment from: The Green rating by Alisdair McNeil (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ISCA-37429-Loss CNV.; to: The Green rating by Alisdair McNeill (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ISCA-37429-Loss CNV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.352 | ISCA-37429-Loss | Rebecca Foulger Marked Region: ISCA-37429-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.352 | ISCA-37429-Loss | Rebecca Foulger Region: isca-37429-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.352 | ISCA-37429-Loss | Rebecca Foulger commented on Region: ISCA-37429-Loss: The Green rating by Alisdair McNeil (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ISCA-37429-Loss CNV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.352 | ISCA-37429-Loss | alisdair mcneill reviewed Region: ISCA-37429-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.245 | ISCA-37429-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37429-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37429-Loss. |
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Early onset or syndromic epilepsy v1.239 | ISCA-37429-Loss | Rebecca Foulger commented on Region: ISCA-37429-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.410 | ISCA-37429-Loss |
Louise Daugherty Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome |