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Cardiomyopathies - including childhood onset

Gene: COX6B1

Green List (high evidence)

COX6B1 (cytochrome c oxidase subunit 6B1)
EnsemblGeneIds (GRCh38): ENSG00000126267
EnsemblGeneIds (GRCh37): ENSG00000126267
OMIM: 124089, Gene2Phenotype
COX6B1 is in 11 panels

3 reviews

Zornitza Stark (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), no evidence of HCM and lactic acidosis, HCM and encephalopathy in infancy in the other (PMID 24781756).

Borderline Green for mitochondrial disease, and only one family where HCM was a feature.
Created: 25 Oct 2020, 3 a.m. | Last Modified: 25 Oct 2020, 3 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.
Created: 16 Apr 2021, 7:52 a.m. | Last Modified: 16 Apr 2021, 7:52 a.m.
Panel Version: 1.22
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COX6B1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, 220110

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
Q2_21_rating
OMIM
124089
Clinvar variants
Variants in COX6B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: COX6B1.

16 Nov 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COX6B1 were set to

16 Nov 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: COX6B1 was added gene: COX6B1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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