EGR2

early growth response 2
OMIM: 129010, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green EGR2 in Mendeliome Version 1.3795	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 AD Dejerine-Sottas disease 145900 AD, AR Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Green EGR2 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 AD Dejerine-Sottas disease 145900 AD, AR Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Green EGR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Red EGR2 in Fetal anomalies Version 1.481	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Charcot-Marie-Tooth disease, type 1D, MIM# 607678 Dejerine-Sottas disease, MIM# 145900 Hypomyelinating neuropathy, congenital, 1, MIM# 605253
Red EGR2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 Dejerine-Sottas disease 145900 Hypomyelinating neuropathy, congenital, 1, MIM# 605253