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Newborns main panel

Gene: NAXE

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27122014 - 1 family PMID: 27616477 - 4 families PMID: 36773198 - 2 cases and review of 14 families from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1
OMIM
608862
Clinvar variants
Variants in NAXE
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NAXE. Added phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 for gene: NAXE Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NAXE. Added phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 for gene: NAXE Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NAXE. Added phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 for gene: NAXE Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NAXE. Added phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 for gene: NAXE Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: NAXE was added gene: NAXE was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1