Activity
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9 actions
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| Intellectual disability v9.177 | ISCA-37433-Gain | Arina Puzriakova Classified Region: ISCA-37433-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.177 | ISCA-37433-Gain |
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-37446 which is green on multiple GMS panels including this panel (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37446-Gain) Checked and approved by the Genomics England Clinical team. |
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| Intellectual disability v9.177 | ISCA-37433-Gain | Arina Puzriakova Region: isca-37433-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.176 | ISCA-37433-Gain | Arina Puzriakova Tag Q3_25_demote_red tag was added to Region: ISCA-37433-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1520 | ISCA-37433-Gain | Arina Puzriakova commented on Region: ISCA-37433-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1520 | ISCA-37433-Gain |
Arina Puzriakova GRCh38 position for ISCA-37433-Gain was changed from 18924718-20299686 to 18924718-20299685. Required Overlap Percentage for ISCA-37433-Gain was changed from 80 to 60. |
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| Intellectual disability v2.402 | ISCA-37433-Gain |
Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain Added phenotypes 608363; Chromosome 22q11.2 microduplication syndrome; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; delayed psychomotor development, growth retardation, and/or hypotonia for Region: ISCA-37433-Gain |
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| Intellectual disability v2.400 | ISCA-37433-Gain | Louise Daugherty GRCh38 position for ISCA-37433-Gain was changed from 18178958-20324381 to 18924718-20299686. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.398 | ISCA-37433-Gain |
Louise Daugherty Region: ISCA-37433-Gain was added Region: ISCA-37433-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Gain were set to 17250668; 20301749; 18414210 Phenotypes for Region: ISCA-37433-Gain were set to delayed psychomotor development, growth retardation, and/or hypotonia; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; Chromosome 22q11.2 microduplication syndrome; 608363 |
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