Inherited white matter disorders

Gene: NAXE

Red List (low evidence)

NAXE (NAD(P)HX epimerase)
EnsemblGeneIds (GRCh38): ENSG00000163382
EnsemblGeneIds (GRCh37): ENSG00000163382
OMIM: 608862, Gene2Phenotype
NAXE is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
OMIM
608862
Clinvar variants
Variants in NAXE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: naxe has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

NAXE was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

NAXE was created by Zornitza Stark