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  3. NDUFA12
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Optic Atrophy

Gene: NDUFA12

Green List (high evidence)
NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 6 panels

1 review

Suliman Khan (Victorian Clinical Genetics Services)

Green List (high evidence)

9 individuals form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature
Created: 4 May 2023, 2:53 a.m. | Last Modified: 4 May 2023, 3:30 a.m.
Panel Version: 1.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
isolated optic atrophy; MONDO:0003608

Publications

Created: 4 May 2023, 2:53 a.m.
Last Modified: 4 May 2023, 3:30 a.m.
Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • isolated optic atrophy
  • MONDO:0003608
OMIM
614530
Clinvar variants
Variants in NDUFA12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa12 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa12 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 0

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

Suliman Khan (Victorian Clinical Genetics Services)

gene: NDUFA12 was added gene: NDUFA12 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to PMID: 35141356 Phenotypes for gene: NDUFA12 were set to isolated optic atrophy; MONDO:0003608 Review for gene: NDUFA12 was set to GREEN