Mitochondrial disease
Gene: C12orf65
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
Gene: c12orf65 has been classified as Green List (High Evidence).
Tag new gene name tag was added to gene: C12orf65.
Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Publications for gene: C12orf65 were set to
Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: C12orf65 was added gene: C12orf65 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: C12orf65 was set to Unknown