Mitochondrial disease
Gene: CYCS

CYCS (cytochrome c, somatic)
EnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 7 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least three families reported.
Created: 5 May 2022, 10:03 a.m. | Last Modified: 5 May 2022, 10:03 a.m.

Panel Version: 0.13830

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 4, MIM# 612004

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 May 2022, 10:03 a.m.
Last Modified: 5 May 2022, 10:03 a.m.
Panel version: Imported from Mendeliome panel version 0.13830

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least three families have been reported with this condition. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation.
Created: 26 Feb 2020, 6:05 a.m. | Last Modified: 26 Feb 2020, 6:05 a.m.

Panel Version: 0.95

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 4 MIM#612004

Publications

Created: 26 Feb 2020, 6:05 a.m.
Last Modified: 26 Feb 2020, 6:05 a.m.
Panel version: 0.95

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Thrombocytopenia 4, MIM#612004

OMIM

123970

Clinvar variants

Variants in CYCS

Penetrance

None

Publications

Panels with this gene