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  2. Likely inborn error of metabolism
  3. NAXE
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Likely inborn error of metabolism

Gene: NAXE

Green List (high evidence)
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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders panel version 1.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NAXE. Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE Publications for gene NAXE were changed from to 27616477; 27290639; 27122014 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NAXE was added gene: NAXE was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAXE was set to Unknown