EMX2

empty spiracles homeobox 2
OMIM: 600035, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red EMX2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.207 Component of the following Super Panels: Malformations of cortical development_Superpanel	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
Green EMX2 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related 46,XX or XY DSD, EMX2-related Tags disputed
Green EMX2 in Mendeliome Version 1.4851	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related DSD, EMX2-related Tags disputed
Red EMX2 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.64	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pierre-Robin sequence, EMX2-related Tags disputed
Red EMX2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.414 Component of the following Super Panels: Progressive Neurological Conditions	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 0.593	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Schizencephaly, MIM# 269160
Amber EMX2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes complex neurodevelopmental disorder - MONDO:0100038, EMX2-related Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related DSD, EMX2-related Tags disputed
Red EMX2 in Fetal anomalies Version 1.576	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Green EMX2 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related 46,XX or XY DSD, EMX2-related Tags disputed