Mitochondrial disease
Gene: C12orf65

C12orf65 (chromosome 12 open reading frame 65)
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with a multi-system Leigh-like mitochondrial disorder as well as isolated SPG but it is unclear if these are distinct. Note HGNC approved name for this gene is MTRFR.
Created: 14 Mar 2021, 1:40 a.m. | Last Modified: 14 Mar 2021, 1:40 a.m.

Panel Version: 0.583

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559

Publications

Created: 14 Mar 2021, 1:40 a.m.
Last Modified: 14 Mar 2021, 1:40 a.m.
Panel version: 0.583

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Spastic paraplegia 55, autosomal recessive, MIM#615035
Combined oxidative phosphorylation deficiency 7, MIM# 613559

Tags

new gene name

OMIM

613541

Clinvar variants

Variants in C12orf65

Penetrance

None

Publications

Panels with this gene