CYCS

cytochrome c, somatic
OMIM: 123970, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CYCS in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombocytopenia 4, OMIM:612004
Red CYCS in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thrombocytopenia 4, OMIM:612004
Green CYCS in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Thrombocytopenia 4, OMIM:612004
Green CYCS in Cytopenia - NOT Fanconi anaemia


Version 3.33
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • North West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Thrombocytopenia 4, OMIM:612004
Amber CYCS in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Thrombocytopenia 4, OMIM:612004
    Amber CYCS in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Thrombocytopenia 4, OMIM:612004
    Tags
    • Q1_24_promote_green
    Amber CYCS in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Thrombocytopenia 4, OMIM:612004
    Tags
    • Q1_24_promote_green
    Red CYCS in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CYCS in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thrombocytopenia 4, 612004