Mitochondrial disorders
Gene: NAXE

NAXE (NAD(P)HX epimerase)
EnsemblGeneIds (GRCh38): ENSG00000163382
EnsemblGeneIds (GRCh37): ENSG00000163382
OMIM: 608862, Gene2Phenotype
NAXE is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Created: 16 Apr 2019, 3:56 p.m.

Panel version: 1.186

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 30 Aug 2018, 11:47 p.m.

Panel version: 1.67

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

608862

Clinvar variants

Variants in NAXE

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

16 Apr 2019, Gel status: 3