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| Malformations of cortical development v3.11 | SOX11 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: SOX11. Tag Q2_22_NHS_review was removed from gene: SOX11. |
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| Malformations of cortical development v3.11 | SOX11 | Arina Puzriakova reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | SOX11 |
Arina Puzriakova Source Expert Review Green was added to SOX11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.143 | SOX11 | Sarah Leigh edited their review of gene: SOX11: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. SOX11 variants have been reported by the NHS, including one from Tracy Lester and de novo variants in around 20 children with overlapping clinical features by Alisdair mcneill (Sheffield childrens hospital)(7 Oct 2019).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.143 | SOX11 | Sarah Leigh Added comment: Comment on phenotypes: Described as MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 by Gen2Phen (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=405). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.143 | SOX11 | Sarah Leigh Phenotypes for gene: SOX11 were changed from intellectual disability; facial dysmorphism; microcephaly; digit anomalies; central nervous system malformations to Coffin-Siris syndrome 9, OMIM:615866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.142 | SOX11 | Sarah Leigh Classified gene: SOX11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.142 | SOX11 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.142 | SOX11 | Sarah Leigh Gene: sox11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.141 | SOX11 |
Sarah Leigh Tag Q2_22_rating tag was added to gene: SOX11. Tag Q2_22_NHS_review tag was added to gene: SOX11. |
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| Malformations of cortical development v2.141 | SOX11 |
Tracy Lester gene: SOX11 was added gene: SOX11 was added to Malformations of cortical development. Sources: NHS GMS Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 24886874; 26543203; 23556151 Phenotypes for gene: SOX11 were set to intellectual disability; facial dysmorphism; microcephaly; digit anomalies; central nervous system malformations Penetrance for gene: SOX11 were set to unknown Review for gene: SOX11 was set to GREEN Added comment: Coffin-Siris syndrome is associated with brain malformations and variable ID. A pathogenic variant in this gene was identified in a case with brain malformations who had R87 panel applied but not R29 or R27. The gene is already green on these other panels. Sources: NHS GMS |
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