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  3. NAXD
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BabyScreen+ newborn screening

Gene: NAXD

Amber List (moderate evidence)
NAXD (NAD(P)HX dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000213995
EnsemblGeneIds (GRCh37): ENSG00000213995
OMIM: 615910, Gene2Phenotype
NAXD is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.

Treatment: niacin

However, only two cases reported. Treatment not established.
Sources: Expert list
Created: 22 Mar 2023, 2:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321

Publications

Created: 22 Mar 2023, 2:08 a.m.

Panel version: 0.2035

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Tags
treatable metabolic
OMIM
615910
Clinvar variants
Variants in NAXD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naxd has been classified as Amber List (Moderate Evidence).

22 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naxd has been classified as Amber List (Moderate Evidence).

22 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAXD was added gene: NAXD was added to Baby Screen+ newborn screening. Sources: Expert list treatable, metabolic tags were added to gene: NAXD. Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410; 31755961; 32462209; 35231119 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Review for gene: NAXD was set to AMBER