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Inborn errors of metabolism

Gene: CYCS

Amber List (moderate evidence)

CYCS (cytochrome c, somatic)
EnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 8 panels

4 reviews

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

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)

Green List (high evidence)

Details

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CYCS was added gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYCS were set to 24326104; PMID: 18345000 Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004