This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NDUFS3
NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Reported as mitochondrial inheritance for both phenotypes and additionally as X-linked for Mitochondrial complex I deficiency 252010Created: 8 Mar 2018, 10:28 a.m.
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported, both as compound heterozygotes in a case of Leigh syndrome due to mitochondrial complex I deficiency (256000) and one of these as a homozygote in a case of Mitochondrial complex I deficiency (252010). Leigh syndrome due to mitochondrial complex 1 deficiency includes features of intellectual disability.
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, 9:32 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- Mitochondrial complex I deficiency 252010
- OMIM
- 603846
- Clinvar variants
- Variants in NDUFS3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Structural basal ganglia 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
- Undiagnosed metabolic disorders
History Filter Activity
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFS3 were set to 26503795; 24896178
8 Mar 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFS3 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000; Mitochondrial complex I deficiency 252010
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFS3 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)NDUFS3 was created by Ellen McDonagh