Mitochondrial disorders
Gene: NAXDComment on mode of inheritance: Setting the mode of inheritance to Biallelic as per OMIM and the expert reviewer.Created: 8 Feb 2023, 12:38 a.m. | Last Modified: 8 Feb 2023, 12:38 a.m.
Panel Version: 3.7
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
Comment on list classification: Promoted from Red to Amber. There are 2 additional cases reported. This gene should be promoted to Green at the next review.Created: 9 Jun 2021, 10:58 a.m. | Last Modified: 9 Jun 2021, 10:58 a.m.
Panel Version: 2.42
Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.Created: 23 Mar 2020, 4:02 a.m. | Last Modified: 23 Mar 2020, 4:02 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Publications
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in at least 3 unrelated casesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Publications
Mode of inheritance for gene: NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
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 29903433; 30576410
Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Publications for gene: NAXD were set to
gene: NAXD was added gene: NAXD was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: NAXD was set to