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Hereditary Neuropathy - complex

Gene: COX10

Amber List (moderate evidence)
COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Multi-system metabolic disorder with neuropathy a feature of disease (not a primary feature).

Reported in two siblings from consanguineous parents with neurological symptoms such as ataxia and muscle weakness (PMID: 10767350)
Created: 23 May 2023, 5:55 a.m. | Last Modified: 23 May 2023, 5:55 a.m.
Panel Version: 0.149

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)

Publications

Created: 23 May 2023, 5:55 a.m.
Last Modified: 23 May 2023, 5:55 a.m.
Panel version: 0.149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)
OMIM
602125
Clinvar variants
Variants in COX10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox10 has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)

30 May 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX10 were set to

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox10 has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: COX10 was added gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN