Leukodystrophy - paediatric
Gene: NFE2L2EnsemblGeneIds (GRCh38): ENSG00000116044
EnsemblGeneIds (GRCh37): ENSG00000116044
OMIM: 600492, Gene2Phenotype
NFE2L2 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Paediatric-onset leukoencephalopathy is a feature of the condition.
Sources: LiteratureCreated: 4 May 2024, 2:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591
- Disorders of glutathione metabolism
- OMIM
- 600492
- Clinvar variants
- Variants in NFE2L2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nfe2l2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nfe2l2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: NFE2L2 was added gene: NFE2L2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism Mode of pathogenicity for gene: NFE2L2 was set to Other Review for gene: NFE2L2 was set to GREEN gene: NFE2L2 was marked as current diagnostic