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BabyScreen+ newborn screening

Gene: EGR2

Red List (low evidence)

EGR2 (early growth response 2)
EnsemblGeneIds (GRCh38): ENSG00000122877
EnsemblGeneIds (GRCh37): ENSG00000122877
OMIM: 129010, Gene2Phenotype
EGR2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease associations with neuropathies.

Variable age of onset.

No specific treatment available.
Created: 16 Nov 2022, 7:17 a.m. | Last Modified: 16 Nov 2022, 7:17 a.m.
Panel Version: 0.901

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR

Details

Mode of Inheritance
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
OMIM
129010
Clinvar variants
Variants in EGR2
Penetrance
None
Panels with this gene

History Filter Activity

16 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egr2 has been classified as Red List (Low Evidence).

16 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253

16 Nov 2022, Gel status: 1

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, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

16 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egr2 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EGR2 was added gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease