Paediatric or syndromic cardiomyopathy
Gene: COX6B1EnsemblGeneIds (GRCh38): ENSG00000126267
EnsemblGeneIds (GRCh37): ENSG00000126267
OMIM: 124089, Gene2Phenotype
COX6B1 is in 10 panels
3 reviews
Zornitza Stark (Australian Genomics)
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)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:12 p.m. | Last Modified: 3 Mar 2022, 1:12 p.m.
Panel Version: 1.65
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
- OMIM
- 124089
- Clinvar variants
- Variants in COX6B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: COX6B1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to COX6B1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: COX6B1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: COX6B1 were set to
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
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