Mitochondrial disorders
Gene: NDUFS4EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels
1 review
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex I deficiency
- Leigh syndrome, 256000
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
- OMIM
- 602694
- Clinvar variants
- Variants in NDUFS4
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NDUFS4 were changed from Isolated complex I deficiency; Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Isolated complex I deficiency; Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NDUFS4. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services