Optic Atrophy
Gene: C12orf65

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note HGNC approved name for this gene is MTRFR.
Created: 14 Mar 2021, 1:42 a.m. | Last Modified: 14 Mar 2021, 1:42 a.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 14 Mar 2021, 1:42 a.m.
Last Modified: 14 Mar 2021, 1:42 a.m.
Panel version: 0.131

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 20598281 - 2 unrelated patient, both w/ hom frameshift

PMID: 23188110 - 1 fam w/ hom nonsense

PMID: 24198383 - 1 fam w/ hom frameshift

All papers found in OMIM, didnt investigate further
Created: 9 Apr 2020, 2:04 a.m. | Last Modified: 9 Apr 2020, 2:04 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive

Publications

Created: 9 Apr 2020, 2:04 a.m.
Last Modified: 9 Apr 2020, 2:04 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Combined oxidative phosphorylation deficiency 7
Spastic paraplegia 55, autosomal recessive

Tags

new gene name

OMIM

613541

Clinvar variants

Variants in C12orf65

Penetrance

None

Publications

Panels with this gene