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| Paediatric disorders - additional genes v0.33 | SOX11 | Rebecca Foulger commented on gene: SOX11: Alisdair McNeill (Sheffield Childrens Hospital) review, copied from DDG2P Panel Version: 1.128, Created: 7 Oct 2019, 2:38 p.m.: I have identified a series (unpublished) of around 20 children with de novo variants in SOX11 and overlapping clinical features. I think this is a real, though rare, cause of neurodevelopmental disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.33 | SOX11 | Rebecca Foulger Mode of inheritance for gene: SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.32 | SOX11 | Rebecca Foulger Classified gene: SOX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.32 | SOX11 | Rebecca Foulger Gene: sox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.31 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to Paediatric disorders - additional genes. Sources: Expert list Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27; Coffin-Siris syndrome 9, 615866 Added comment: Added SOX11 to the panel based on a Green review left by Alisdair McNeill (Sheffield Childrens Hospital) for SOX11 on the PanelApp DDG2P panel. SOX11 currently has a probable Disease confidence in Gene2Phenotype for MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, but Alisdair McNeil's review provides sufficient cases for a Green rating on the Paediatric disorders Super panel. Sources: Expert list |
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