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  3. COX6B1
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Cardiomyopathy_Paediatric

Gene: COX6B1

Amber List (moderate evidence)
COX6B1 (cytochrome c oxidase subunit 6B1)
EnsemblGeneIds (GRCh38): ENSG00000126267
EnsemblGeneIds (GRCh37): ENSG00000126267
OMIM: 124089, Gene2Phenotype
COX6B1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families and supportive functional data. Presentation was with neurological regression in childhood in one family (PMID 18499082) and lactic acidosis, HCM and encephalopathy in infancy in the other (PMID 24781756).
Created: 25 Oct 2020, 2:55 a.m. | Last Modified: 25 Oct 2020, 2:55 a.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051

Publications

Created: 25 Oct 2020, 2:55 a.m.
Last Modified: 25 Oct 2020, 2:55 a.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
OMIM
124089
Clinvar variants
Variants in COX6B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6b1 has been classified as Amber List (Moderate Evidence).

25 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051

25 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX6B1 were set to

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6b1 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX6B1 was added gene: COX6B1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110