This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NDUFA12
NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. A single variant was reported in 10-year-old girl with complex I deficiency and Leigh syndrome, although she had multiple physical disabilities, her mental development was normal.
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, 3:39 p.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 1 deficiency 256000
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
History Filter Activity
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA12 were set to 21617257; 26503795; 24896178
8 Mar 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFA12 were set to 26503795; 24896178
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA12 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)NDUFA12 was created by Ellen McDonagh