Early onset dystonia
Gene: NDUFA12
Comment on list classification: Gene was recently upgraded to Green on GMS panels and therefore also updating the rating here to ensure all panels display correct knowledge.Created: 25 Aug 2022, 1:34 p.m. | Last Modified: 25 Aug 2022, 1:34 p.m.
Panel Version: 1.120
At least 17 individuals from 11 unrelated families identified with different homozygous variants in this gene. Phenotypic variability was evident among cases ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy - although sufficient cases presenting with each feature to make Green on the respective gene panels (PMID: 21617257; 33715266; 35141356).Created: 25 Aug 2022, 1:34 p.m. | Last Modified: 25 Aug 2022, 1:34 p.m.
Panel Version: 1.119
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications
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
Gene: ndufa12 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFA12 were changed from Leigh syndrome due to mitochondrial complex 1 deficiency 256000 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications for gene: NDUFA12 were set to 21617257
NDUFA12 was added to Early onset dystonia panel. Sources: Literature
NDUFA12 was created by Sarah Leigh