Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: NAXE

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Added to this panel as acute/early-onset ataxia is described in several cases as one of the first symptoms of disease and inclusion may allow for earlier detection. Other cerebellar signs such as nystagmus and dysarthria also reported.
Created: 26 May 2021, 11:13 a.m. | Last Modified: 26 May 2021, 11:36 a.m.
Panel Version: 2.188
Individuals from at least 12 unrelated families reported in literature with biallelic variants in this gene. The disease phenotype is characterised by fever-induced rapidly progressive neurologic regression including encephalopathy, developmental impairment, seizures, cerebellar ataxia, tetraplegia/-paresis and skin lesions. Brain MRI in most cases showed white matter abnormalities, consistent with leukoencephalopathy. Most patients died within 2 months–4 years after disease manifestation.
Created: 26 May 2021, 11:13 a.m. | Last Modified: 26 May 2021, 11:13 a.m.
Panel Version: 1.105

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186

Publications

Zornitza Stark (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.
Created: 15 Sep 2020, 10:54 p.m. | Last Modified: 15 Sep 2020, 10:54 p.m.
Panel Version: 1.14

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 Amber
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Tags
Q2_21_rating
OMIM
608862
Clinvar variants
Variants in NAXE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: NAXE was added gene: NAXE was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Q2_21_rating tags were added to gene: NAXE. Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27616477; 27122014; 27290639; 30022751; 31758406; 31745726 Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186