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Mitochondrial disease

Gene: COX6A1

Green List (high evidence)

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

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

History Filter Activity

3 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6a1 has been classified as Green List (High Evidence).

3 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467

3 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX6A1 were set to

3 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX6A1 was added gene: COX6A1 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: COX6A1 was set to Unknown