Paediatric or syndromic cardiomyopathy
Gene: CYC1
CYC1 (cytochrome c1)
EnsemblGeneIds (GRCh38): ENSG00000179091
EnsemblGeneIds (GRCh37): ENSG00000179091
OMIM: 123980, Gene2Phenotype
CYC1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000179091
EnsemblGeneIds (GRCh37): ENSG00000179091
OMIM: 123980, Gene2Phenotype
CYC1 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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: CYC1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 6, 615453
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 5:19 p.m.
Comment on list classification: Promoted from red to green due to expert review and it is a confirmed DD gene.Created: 26 Feb 2016, 5:19 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 6, 615453
- OMIM
- 123980
- Clinvar variants
- Variants in CYC1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
History Filter Activity
2 Dec 2019, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to CYC1. Rating Changed from Green List (high evidence) to Red List (low evidence)
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CYC1 was added gene: CYC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453