Mitochondrial disorders
Gene: NDUFA8
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
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Three individuals from two unrelated families now reported in literature with supportive functional studies (PMID: 32385911; 33153867).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272
Publications
Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.Created: 4 Aug 2020, 11:02 a.m. | Last Modified: 4 Aug 2020, 11:02 a.m.
Panel Version: 2.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Publications
Comment on list classification: Candidate gene, but no currently known pathogenic mutations, therefore this gene should be demoted to red.Created: 8 Feb 2016, 2:33 p.m.
no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiencyCreated: 3 Feb 2016, 5:30 p.m.
Tag Q3_22_rating was removed from gene: NDUFA8.
Source NHS GMS was added to NDUFA8. Source Expert Review Green was added to NDUFA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NDUFA8 were changed from Isolated complex I deficiency; No OMIM phenotype; Mitochondrial Diseases to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Publications for gene: NDUFA8 were set to 15576045
Mode of inheritance for gene: NDUFA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: NDUFA8.
Publications for gene: NDUFA8 were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
NDUFA8 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFA8 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFA8 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory