Inherited white matter disorders
Gene: NAXE
Comment on list classification: Upgraded from Red to Green. Sufficient number of unrelated cases (>3) with white matter abnormalities to rate as Green on this panel.Created: 26 May 2021, 11:19 a.m. | Last Modified: 26 May 2021, 11:19 a.m.
Panel Version: 1.100
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, 11:16 a.m. | Last Modified: 26 May 2021, 11:16 a.m.
Panel Version: 1.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186
Publications
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:03 p.m.
11 individuals from 5 unrelated families reported in the literature, leukoencephalopathy is part of the phenotype.Created: 24 Jul 2018, 3 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: naxe has been classified as Green List (High Evidence).
Publications for gene: NAXE were set to 27616477, 27122014
Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Gene: naxe has been classified as Red List (Low Evidence).
NAXE was added to Inherited white matter disorders panel. Sources: Expert list
NAXE was created by Zornitza Stark