Genes in panel

Inborn errors of metabolism

Gene: NAXD

Amber List (moderate evidence)

NAXD (NAD(P)HX dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000213995
EnsemblGeneIds (GRCh37): ENSG00000213995
OMIM: 615910, Gene2Phenotype
NAXD is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Affected individuals show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures triggered by acute fever. The affected infants usually die in the first few years of life. Brain imaging shows multiple abnormalities, including brain edema and white matter abnormalities. The infants also present with skin lesions/rash.
Created: 9 Jun 2021, 11:05 a.m. | Last Modified: 9 Jun 2021, 11:05 a.m.
Panel Version: 1.165
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 9 Jun 2021, 10:53 a.m. | Last Modified: 9 Jun 2021, 10:53 a.m.
Panel Version: 1.165
Comment on publications: PMID: 31755961 and 33224489 are 2 additional cases. PMID: 31755961 did not mention anything about the patient's brain.
Created: 9 Jun 2021, 10:50 a.m. | Last Modified: 9 Jun 2021, 10:50 a.m.
Panel Version: 1.164

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported.
Sources: Expert list
Created: 15 Sep 2020, 10:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
Tags
Q2_21_rating
OMIM
615910
Clinvar variants
Variants in NAXD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: NAXD was added gene: NAXD was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating 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; 33224489; 31755961 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321