Mitochondrial disorders
Gene: CYCSComment on list classification: There are sufficient unrelated cases to support a gene-disease association and given that in vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain, this gene can be promoted to Green status at the next GMS panel update.Created: 12 Mar 2024, 4:40 p.m. | Last Modified: 12 Mar 2024, 4:40 p.m.
Panel Version: 4.164
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: 19 Mar 2020, 9:25 a.m. | Last Modified: 19 Mar 2020, 9:25 a.m.
Panel Version: 2.5
Please note recent report of a third unrelated patient.Created: 29 Aug 2018, 5:41 a.m.
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
Comment on mode of inheritance: Sourced from OMIM, and not on the imprinted gene list.Created: 26 Feb 2016, 5:27 p.m.
Comment on list classification: Mutations reported in 2 families, in seperate publications, with functional data.Created: 26 Feb 2016, 5:24 p.m.
Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Tag Q1_24_promote_green tag was added to gene: CYCS.
Gene: cycs has been classified as Amber List (Moderate Evidence).
Publications for gene: CYCS were set to PMID: 18345000; 24326104
Victorian Clinical Genetics Services was added to CYCS. Panel: Mitochondrial disorders
Mode of inheritance for CYCS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for CYCS were set to PMID: 18345000; 24326104
This gene has been classified as Amber List (Moderate Evidence).
CYCS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen