This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NDUFA9
NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels
1 review
Louise Daugherty (Genomics England Curator)
Currently there is not enough evidence to support this gene being upgraded from the Red ratingCreated: 26 Feb 2018, 11:09 a.m.
Comment on publications: added publications of single reported case and current GeneReview for Nuclear Gene-Encoded Leigh Syndrome Overview.Created: 26 Feb 2018, 10:57 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 single reported case for NDUFA9, but could be more conclusive when more cases are reported.Created: 26 Feb 2018, 10:54 a.m.
Comment on mode of inheritance: added MOI for Leigh syndromeCreated: 26 Feb 2018, 10:50 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Gene2Phenotype
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
- Leigh disease with leukodystrophy
- Nuclear Gene-Encoded Leigh syndrome
- OMIM
- 603834
- Clinvar variants
- Variants in NDUFA9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- 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
- DDG2P
- Mitochondrial disorder with complex I deficiency
History Filter Activity
26 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for NDUFA9 were set to 22114105; 26425749
26 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 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 NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA9 was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NDUFA9 was created by Ellen McDonagh