Activity
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| Paediatric motor neuronopathies v3.11 | 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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| Paediatric motor neuronopathies v1.77 | ISCA-37478-Loss | Ivone Leong commented on Region: ISCA-37478-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v1.77 | ISCA-37478-Loss |
Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60. |
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| Paediatric motor neuronopathies v1.14 | ISCA-37478-Loss |
Louise Daugherty Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830 |
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