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Intellectual disability syndromic and non-syndromic

Gene: EMX2

Amber List (moderate evidence)

EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Approximately 10 individuals reported in 1995-97 with variants in this gene and schizencephaly; however, note association has been disputed in subsequent publications. Also note, only P/LP variants in ClinVar are from 1996, all others are VOUS/LB.
Created: 29 Apr 2020, 4:57 a.m. | Last Modified: 29 Apr 2020, 4:57 a.m.
Panel Version: 0.2605

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schizencephaly, MIM# 269160

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Schizencephaly, MIM# 269160
Tags
disputed
OMIM
600035
Clinvar variants
Variants in EMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: EMX2.

29 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emx2 has been classified as Amber List (Moderate Evidence).

29 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160

29 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EMX2 were set to

29 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emx2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMX2 was added gene: EMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EMX2 was set to Unknown