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Intellectual disability

Gene: EMX2

Green List (high evidence)

EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 5 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases; phenotype is of structural brain abnormality with variable ID. Although cases may be excluded on the MRI findings, on balance there is sufficient evidence for a gene:phenotype match.
Created: 13 Nov 2017, 3:07 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FAMILIAL SCHIZENCEPHALY, EMX2-RELATED

Publications

  • 0

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Possible DD gene for FAMILIAL SCHIZENCEPHALY, EMX2-RELATED in Gene2Phenotype.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Schizencephaly 269160

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schizencephaly 269160
OMIM
600035
Clinvar variants
Variants in EMX2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to EMX2. Panel: Intellectual disability Model of inheritance for gene EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene EMX2 was set to ['9359037', '24975717', '27125467', '9153481']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

EMX2 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EMX2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen