Possible mitochondrial disorder - nuclear genes
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, 4:42 p.m. | Last Modified: 12 Mar 2024, 4:42 p.m.
Panel Version: 3.90
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: 12 Mar 2024, 4:42 p.m. | Last Modified: 12 Mar 2024, 4:42 p.m.
Panel Version: 3.89
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia 4, 612004
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
Publications for gene: CYCS were set to
Gene: cycs has been classified as Amber List (Moderate Evidence).
Tag Q1_24_promote_green tag was added to gene: CYCS.
gene: CYCS was added gene: CYCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004