White matter disorders and cerebral calcification - narrow panel
Gene: NAXD
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
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 NHS GMS was added to NAXD. Source Expert Review Green was added to NAXD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: NAXD.
Gene: naxd has been classified as Amber List (Moderate Evidence).
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
gene: NAXD was added gene: NAXD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410 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 GREEN gene: NAXD was marked as current diagnostic