Likely inborn error of metabolism

Gene: CYCS

Green List (high evidence)

Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain.

This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/) and can therefore be promoted to green rating in this panel in the next GMS update.

Created: 7 Jun 2025, 8:12 p.m. | Last Modified: 7 Jun 2025, 9:02 p.m.

Panel Version: 8.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

The phenotype of Thrombocytopenia 4 612004 is not relevant to Inborn errors of metabolism nor Mitochondrial panels (Helen Britain, GEL Clinical Fellow).

Created: 12 Dec 2019, 12:27 p.m. | Last Modified: 12 Dec 2019, 12:27 p.m.

Panel Version: 1.425

Green List (high evidence)

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

• 30051457

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.

Green List (high evidence)