EGR2

early growth response 2
OMIM: 129010, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red EGR2 in White matter disorders and cerebral calcification - narrow panel Version 1.32 Signed off v.1.12 on 2 Mar 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	Unknown	Sources Expert Review Red Phenotypes Neuropathy, congenital hypomyelinating, 1, 605253 Charcot-Marie-Tooth disease,type 1D,607678 Dejerine-Sottas disease,145900
Red EGR2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth disease,type 1D,607678 Dejerine-Sottas disease,145900 Neuropathy, congenital hypomyelinating, 1, 605253
Red EGR2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.52 Signed off v.3.2 on 13 Feb 2020	review	Not set	Sources Expert Review Red Expert list
Red EGR2 in Fetal anomalies Version 1.185 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
Green EGR2 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
Green EGR2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot Marie Tooth disease, type 1D, 607678 Charcot-Marie-Tooth, Type 1
Red EGR2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green EGR2 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth, Type 1 Charcot Marie Tooth disease, type 1D, 607678
Green EGR2 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 1D, 607678 Dejerine-Sottas disease, 145900 Hypomyelinating neuropathy, congenital, 1, 605253