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  3. CYC1
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Mitochondrial disorders

Gene: CYC1

Green List (high evidence)
CYC1 (cytochrome c1)
EnsemblGeneIds (GRCh38): ENSG00000179091
EnsemblGeneIds (GRCh37): ENSG00000179091
OMIM: 123980, Gene2Phenotype
CYC1 is in 10 panels

2 reviews

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.
Created: 26 Feb 2016, 5:19 p.m.

Panel version: 0.380

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
OMIM
123980
Clinvar variants
Variants in CYC1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CYC1. Panel: Mitochondrial disorders

26 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CYC1 were set to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 6, 615453

26 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CYC1 was changed to BIALLELIC, autosomal or pseudoautosomal

26 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen