Dystonia - childhood onset

Gene: NDUFA9

Red List (low evidence)

NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels

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History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NDUFA9 was added gene: NDUFA9 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA9 were set to 22114105 Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000