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  3. NAXD
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Likely inborn error of metabolism

Gene: NAXD

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
Created: 14 Mar 2022, 2:05 p.m.
Last Modified: 14 Mar 2022, 2:05 p.m.
Panel version: 2.229

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
Created: 9 Jun 2021, 10:50 a.m.
Last Modified: 9 Jun 2021, 10:50 a.m.
Copied from panel: White matter disorders and cerebral calcification - narrow panel v1.165

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

Created: 15 Sep 2020, 10:29 p.m.

Copied from panel: White matter disorders and cerebral calcification - narrow panel v1.165

Details

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

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: NAXD.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to NAXD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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