Inherited white matter disorders
Gene: NDUFS4EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY more than 3 cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial complex I disorders. Green gene in the Mitochondrial panel version 1.10.Created: 18 Aug 2016, 3:23 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_653
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex I disorders
- MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
- Mitochondrial complex I deficiency
- OMIM
- 602694
- Clinvar variants
- Variants in NDUFS4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NDUFS4 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NDUFS4 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ian Berry (Leeds Genetics Laboratory)NDUFS4 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)NDUFS4 was added to Inherited white matter disorderspanel. Sources: Expert list