This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NDUFA10
NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
1 review
Louise Daugherty (Genomics England Curator)
Currently there is not enough evidence to support this gene being upgraded from the Red rating.Created: 26 Feb 2018, 11:42 a.m.
Comment on phenotypes: Added Phenotype from OMIM and Orphanet. Mutations have been identified in both nuclear- and mitochondrial-encoded genes involved in energy metabolism, including mitochondrial respiratory chain complexes I, II, III, IV, and V, which are involved in oxidative phosphorylation and the generation of ATP, and components of the pyruvate dehydrogenase complex. This gene is one of the nuclear Gene-Encoded genes that cause Leigh syndrome. While there are pathogenic variants in more than 50 nuclear genes that can cause nuclear gene-encoded Leigh syndrome, all but a few of these gene defects are associated with a very limited number of cases, and only some result in an intellectual disability phenotype (Developmental regression,Cognitive dysfunction), this has not been observed in the two unrelated reported cases for NDUFA10, but this could be more conclusive when more cases are reported.Created: 26 Feb 2018, 11:33 a.m.
Comment on publications: added publications of reported cases and current GeneReview for Nuclear Gene-Encoded Leigh Syndrome Overview.Created: 26 Feb 2018, 11:29 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Gene2Phenotype
- Phenotypes
-
- Leigh syndrome, 256000
- Leigh disease with leukodystrophy
- Nuclear Gene-Encoded Leigh syndrome
- OMIM
- 603835
- Clinvar variants
- Variants in NDUFA10
- 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
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
26 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NDUFA10 were set to Leigh syndrome, 256000; Leigh disease with leukodystrophy; Nuclear Gene-Encoded Leigh syndrome
26 Feb 2018, Gel status: 1
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for NDUFA10 were set to 26425749; 26741492; 21150889
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA10 was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NDUFA10 was created by Ellen McDonagh