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Intellectual disability

Gene: SOX11

Green List (high evidence)

SOX11 (SRY-box 11)
EnsemblGeneIds (GRCh38): ENSG00000176887
EnsemblGeneIds (GRCh37): ENSG00000176887
OMIM: 600898, Gene2Phenotype
SOX11 is in 7 panels

4 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27

Publications

Alice Gardham (Genomics England)

Comment on list classification: Growing evidence that mutations are associated with Coffin Siris syndrome or Coffin Siris -like condition
Created: 23 Nov 2016, 9:40 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

de novo loss of function variants are associated with intellectual disability with coffin-siris features
Created: 29 Jun 2016, 6:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coffin-siris; intellectual disability

Publications

  • http://www.ncbi.nlm.nih.gov/pubmed/26543203

Variants in this GENE are reported as part of current diagnostic practice

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
OMIM
600898
Clinvar variants
Variants in SOX11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SOX11 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX11 was added to Intellectual disabilitypanel. Sources: Expert Review Green