Early onset dystonia

Gene: NDUFA12

Red List (low evidence)

NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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. From age 2 years, she showed progressive loss of motor abilities and developed scoliosis and dystonia. At age 10 years, she had poor growth, used a wheelchair, and had severe muscular atrophy and hypotonia, her mental development was normal.
Created: 13 Mar 2018, 11:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex 1 deficiency 256000

Publications

History Filter Activity

13 Mar 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFA12 was added to Early onset dystonia panel. Sources: Literature

13 Mar 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFA12 was created by Sarah Leigh