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Epidermolysis bullosa and congenital skin fragility

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

2 reviews

Ivone Leong (Genomics England Curator)

I don't know

After consulting the clinical team at Genomics England, this gene has been added to this panel with an Amber rating (pending more evidence) as there is a skin phenotype is present in patients and may be the first things the patient is being seen for (PMID: 33224489).
Created: 19 Jul 2021, 9:13 a.m. | Last Modified: 19 Jul 2021, 9:13 a.m.
Panel Version: 1.49
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 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 v1.189

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 v1.189

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
watchlist
OMIM
615910
Clinvar variants
Variants in NAXD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2021, Gel status: 2

Removed Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: NAXD. Tag watchlist tag was added to gene: NAXD.

19 Jul 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 Epidermolysis bullosa and congenital skin fragility. 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