Coarse facial features including Coffin-Siris-like disorders

Gene: SOX11

Green List (high evidence)

SOX11 (SRY-box 11)
EnsemblGeneIds (GRCh38): ENSG00000176887
EnsemblGeneIds (GRCh37): ENSG00000176887
OMIM: 600898, Gene2Phenotype
SOX11 is in 6 panels

2 reviews

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • coffin-siris syndrome
OMIM
600898
Clinvar variants
Variants in SOX11
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/pubmed/?term=mcneill+sox11
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

SOX11 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature

29 Jun 2016, Gel status: 0

Created

alisdair mcneill (Sheffield childrens hospital)

SOX11 was created by [email protected]