Mitochondrial disorders
Gene: NAXEComment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.Created: 16 Apr 2019, 4 p.m.
Individuals from five unrelated families reported in the literature with bi-allelic variants in this gene; NAXE encodes an enzyme involved in NADH/NADPH processing.Created: 30 Aug 2018, 11:47 p.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
Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Gene: naxe has been classified as Green List (High Evidence).
Publications for gene: NAXE were set to
Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Mode of inheritance for gene: NAXE was changed from to BIALLELIC, autosomal or pseudoautosomal
NAXE was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
NAXE was created by Sarah Leigh