Hereditary Neuropathy_CMT - isolated
Gene: EGR2EnsemblGeneIds (GRCh38): ENSG00000122877
EnsemblGeneIds (GRCh37): ENSG00000122877
OMIM: 129010, Gene2Phenotype
EGR2 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 11523566 and 31852952:
- Genotype-phenotype correlation: unclear, as the same R359W variant has been associated with all 3 phenotypes, all in heterozygous patients. Variable expressivity reported.
- Dominant-negative is likely the mechanism for the variants in the zync finger domains.Created: 8 May 2020, 3:32 a.m. | Last Modified: 8 May 2020, 3:32 a.m.
Panel Version: 0.2777
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Publications
Mode of pathogenicity
Other
Michelle Torres (Victorian Clinical Genetics Services)
PMID: 11523566 and 31852952:
- Genotype-phenotype correlation: unclear, as the same R359W variant has been associated with all 3 phenotypes, all in heterozygous patients. Variable expressivity reported.
- Dominant-negative is likely the mechanism for the variants in the zync finger domains.Created: 8 May 2020, 2:20 a.m. | Last Modified: 8 May 2020, 2:20 a.m.
Panel Version: 0.37
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 129010
- Clinvar variants
- Variants in EGR2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: egr2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EGR2 were changed from HMSN; Charcot Marie Tooth disease, type 1D, 607678 to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EGR2 were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: EGR2 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EGR2 was added gene: EGR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EGR2 were set to HMSN; Charcot Marie Tooth disease, type 1D, 607678