Activity
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9 actions
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| Early onset or syndromic epilepsy v8.65 | ISCA-37404-Loss | Arina Puzriakova Classified Region: ISCA-37404-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.65 | ISCA-37404-Loss |
Arina Puzriakova Added comment: Comment on list classification: This region has been deprecated by ClinGen and therefore should be removed from the panel. This region has been subsumed into ISCA-37478 which is green on multiple GMS panels including this panel (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37478-Loss) Checked and approved by the Genomics England Clinical team. |
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| Early onset or syndromic epilepsy v8.65 | ISCA-37404-Loss | Arina Puzriakova Region: isca-37404-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.64 | ISCA-37404-Loss | Arina Puzriakova Tag Q3_25_demote_red tag was added to Region: ISCA-37404-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37404-Loss | Arina Puzriakova commented on Region: ISCA-37404-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37404-Loss |
Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Triplosensitivity Score for ISCA-37404-Loss was changed from None to . Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.241 | ISCA-37404-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37404-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37404-Loss. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37404-Loss | Rebecca Foulger commented on Region: ISCA-37404-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37404-Loss |
Louise Daugherty Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105832; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome |
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