White matter disorders and cerebral calcification - childhood onset
Gene: NDUFS2
NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I disorders
- Leigh syndrome associated with mitochondrial complex I deficiency
- Mitochondrial Leukoencephalopathy
- Leigh syndrome
- OMIM
- 602985
- Clinvar variants
- Variants in NDUFS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
- Familial Meniere Disease
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Mitochondrial disorder with complex I deficiency
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NDUFS2 was added gene: NDUFS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 20819849; 11220739; 25655951; 22036843; 23266820 Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome associated with mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; Leigh syndrome