Early onset dystonia

Gene: NDUFA12

Green List (high evidence)

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

• 21617257
• 33715266
• 35141356

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

• 21617257