Inherited white matter disorders

Gene: EGR2

Red List (low evidence)

EGR2 (early growth response 2)
EnsemblGeneIds (GRCh38): ENSG00000122877
EnsemblGeneIds (GRCh37): ENSG00000122877
OMIM: 129010, Gene2Phenotype
EGR2 is in 8 panels

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth disease,type 1D,607678
  • Dejerine-Sottas disease,145900
  • Neuropathy, congenital hypomyelinating, 1, 605253
OMIM
129010
Clinvar variants
Variants in EGR2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EGR2 was created by ellenmcdonagh

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EGR2 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen