Mitochondrial disorders
Gene: NAXDEnsemblGeneIds (GRCh38): ENSG00000213995
EnsemblGeneIds (GRCh37): ENSG00000213995
OMIM: 615910, Gene2Phenotype
NAXD is in 6 panels
5 reviews
Eleanor Williams (Genomics England Curator)
Comment 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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
- OMIM
- 615910
- Clinvar variants
- Variants in NAXD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: NAXD.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: NAXD.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: naxd has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NAXD were set to 29903433; 30576410
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NAXD were set to
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: NAXD was added gene: NAXD was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: NAXD was set to