Inherited white matter disorders

Gene: NAXE

Green List (high evidence)

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

• 27616477
• 27122014
• 27290639
• 30022751
• 31758406
• 31745726

Comment on list classification: This gene is awaiting curator evaluation and rating.

Created: 19 Dec 2018, 1:03 p.m.

Green List (high evidence)

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

• 27616477, 27122014

Variants in this GENE are reported as part of current diagnostic practice