Possible mitochondrial disorder - nuclear genes
Gene: CYCSEnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 8 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.
Panel Version: 3.113
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arina Puzriakova (Genomics England Curator)
Comment 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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Thrombocytopenia 4, OMIM:612004
- OMIM
- 123970
- Clinvar variants
- Variants in CYCS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: CYCS.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to CYCS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CYCS were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cycs has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: CYCS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)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