Malformations of cortical development
Gene: SOX11EnsemblGeneIds (GRCh38): ENSG00000176887
EnsemblGeneIds (GRCh37): ENSG00000176887
OMIM: 600898, Gene2Phenotype
SOX11 is in 8 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Sarah Leigh (Genomics England Curator)
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).Created: 19 May 2022, 4:39 p.m. | Last Modified: 19 May 2022, 4:39 p.m.
Panel Version: 2.143
Comment on phenotypes: Described as MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 by Gen2Phen (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=405)Created: 19 May 2022, 4:31 p.m. | Last Modified: 19 May 2022, 4:31 p.m.
Panel Version: 2.143
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 May 2022, 4:28 p.m. | Last Modified: 19 May 2022, 4:28 p.m.
Panel Version: 2.142
Tracy Lester (Genetics laboratory, Oxford UK)
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 GMSCreated: 21 Apr 2022, 3:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; facial dysmorphism; microcephaly; digit anomalies; central nervous system malformations
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Coffin-Siris syndrome 9, OMIM:615866
- OMIM
- 600898
- Clinvar variants
- Variants in SOX11
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_rating was removed from gene: SOX11. Tag Q2_22_NHS_review was removed from gene: SOX11.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SOX11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sox11 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_rating tag was added to gene: SOX11. Tag Q2_22_NHS_review tag was added to gene: SOX11.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tracy Lester (Genetics laboratory, Oxford UK)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