This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Also reported as mitochondrial and X-linkedCreated: 8 Mar 2018, 10:48 a.m.
Associated with phenotype in OMIM, not in G2P. At least 3 variants reported, 3 case of Mitochondrial complex I deficiency (252010).
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)Created: 8 Mar 2018, 10:35 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial complex I deficiency 252010
- OMIM
- 602985
- Clinvar variants
- Variants in NDUFS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Familial Meniere Disease
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
History Filter Activity
8 Mar 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFS2 were set to Mitochondrial complex I deficiency 252010
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFS2 were set to 26503795; 24896178
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS2 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NDUFS2 was created by Ellen McDonagh