Optic neuropathy
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
1 review
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 6, 618228
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 6, 618228
- OMIM
- 602985
- Clinvar variants
- Variants in NDUFS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
19 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, 618228
19 Mar 2019, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NDUFS2 were set to
19 Mar 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NDUFS2 was added gene: NDUFS2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS2 was set to