Mitochondrial disorder with complex I deficiency
Gene: NDUFA8
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:34 a.m. | Last Modified: 1 Feb 2023, 11:34 a.m.
Panel Version: 2.3
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.17
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: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: No definitive reports of human disease; complex I subunitCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA8; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:06 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 10:53 a.m.
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. Tag Q3_22_NHS_review was removed from gene: NDUFA8.
Source Expert Review Green was added to NDUFA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NDUFA8 were changed from Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Phenotypes for gene: NDUFA8 were changed from No OMIM phenotype 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 Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: NDUFA8. Tag Q3_22_NHS_review tag was added to gene: NDUFA8.
Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFA8 were set to
Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
gene: NDUFA8 was added gene: NDUFA8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to No OMIM phenotype