EMX2

empty spiracles homeobox 2
OMIM: 600035, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red EMX2 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Schizencephaly MIM# 269160
Tags
  • disputed

Red EMX2 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly, MIM# 269160
Tags
  • disputed

Red EMX2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Schizencephaly, MIM# 269160
Tags
  • disputed

Red EMX2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly, MIM# 269160

Red EMX2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Schizencephaly, MIM# 269160
Tags
  • disputed

Red EMX2 in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Schizencephaly, MIM# 269160
Tags
  • disputed