Mitochondrial disorders
Gene: NDUFA3EnsemblGeneIds (GRCh38): ENSG00000170906
EnsemblGeneIds (GRCh37): ENSG00000170906
OMIM: 603832, Gene2Phenotype
NDUFA3 is in 4 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on publications: PMID:39661167 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.Created: 26 Mar 2025, 3:12 p.m. | Last Modified: 26 Mar 2025, 3:12 p.m.
Panel Version: 8.20
PMID: 39661167 (2024) - three affected siblings presented with Leigh syndrome and compound heterozygous variants in the NDUFA3 gene (c.10+1G>T and c.66_68delCTT). The siblings showed abnormalities in muscle tone and motor and language delays, although symptoms were relatively mild. Muscle tone abnormalities worsened in one child following injury, and cranial MRI showed lesions in the basal ganglia and brainstem.
This is the first report of NDUFA3 associated with disease in humans to date and therefore additional evidence is needed before this gene can be implicated conclusively.Created: 26 Mar 2025, 3:05 p.m. | Last Modified: 26 Mar 2025, 3:05 p.m.
Panel Version: 8.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome
Publications
Shamima Rahman (UCL Institute of Child Health)
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 7 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Leigh syndrome
- OMIM
- 603832
- Clinvar variants
- Variants in NDUFA3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NDUFA3 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFA3 were changed from Isolated complex I deficiency; No OMIM phenotype to Leigh syndrome
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NDUFA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen