Likely inborn error of metabolism - targeted testing not possible
Gene: NAXDThe 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
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
Six unrelated families reported.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: NAXD.
Source Expert Review Green was added to NAXD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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