Mitochondrial disease
Gene: COX6A1

COX6A1 (cytochrome c oxidase subunit 6A1)
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported with same homozygous intronic deletion, (c.247-10_247-6delCACTC, NM_004373.3). Two of the families were Japanese but third individual was Czech and haplotype analysis provided evidence against founder effect. Mouse model.
Created: 3 May 2021, 8:03 a.m. | Last Modified: 3 May 2021, 8:03 a.m.

Panel Version: 0.618

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467

Publications

Created: 3 May 2021, 8:03 a.m.
Last Modified: 3 May 2021, 8:03 a.m.
Panel version: 0.618

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039
MONDO:0014467

OMIM

602072

Clinvar variants

Variants in COX6A1

Penetrance

None

Publications

Panels with this gene