Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Regression

Gene: NAXE

Green List (high evidence)

NAXE (NAD(P)HX epimerase)
EnsemblGeneIds (GRCh38): ENSG00000163382
EnsemblGeneIds (GRCh37): ENSG00000163382
OMIM: 608862, Gene2Phenotype
NAXE is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Sources: Expert Review
Created: 21 Oct 2024, 12:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
OMIM
608862
Clinvar variants
Variants in NAXE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naxe has been classified as Green List (High Evidence).

21 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naxe has been classified as Green List (High Evidence).

21 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAXE was added gene: NAXE was added to Regression. Sources: Expert Review Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27122014; 27616477; 31758406 Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Review for gene: NAXE was set to GREEN