Ataxia and cerebellar anomalies - narrow panel
Gene: NAXE
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
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
Tag Q2_21_rating was removed from gene: NAXE.
Source Expert Review Green was added to NAXE. Source NHS GMS was added to NAXE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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