Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFA13
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.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. Two unrelated families now reported with biallelic variants in this gene (PMIDs: 25901006; 32722639). Phenotype manifestations between the families were different but functional studies were supportive indicating mitochondrial dysfunction.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249
Publications
No further variants have been reported in the literature to date (21/10/2019).Created: 21 Oct 2019, 3:14 p.m. | Last Modified: 21 Oct 2019, 3:14 p.m.
Panel Version: 1.373
As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.Created: 2 May 2019, 2:13 p.m.
Comment on phenotypes: Removed "{Thyroid carcinoma, Hurthle cell}, 607464" from phenotypes as this phenotype is not relevant to this panel.Created: 2 May 2019, 2:05 p.m.
Comment on list classification: As there is only one report so far according to the reviewer, this should be red.Created: 8 Feb 2016, 2:26 p.m.
single report in literature:
two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathyCreated: 3 Feb 2016, 5:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating was removed from gene: NDUFA13.
Source NHS GMS was added to NDUFA13. Source Expert Review Green was added to NDUFA13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NDUFA13 were changed from Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Publications for gene: NDUFA13 were set to 25901006
Tag Q3_22_rating tag was added to gene: NDUFA13.
Publications for gene: NDUFA13 were set to
Sarah Leigh: Associated with phenotype in O
gene: NDUFA13 was added gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency