HLCS

holocarboxylase synthetase
OMIM: 609018, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green HLCS in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency

Green HLCS in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Holocarboxylase synthetase deficiency 253270

Green HLCS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency
  • Holocarboxylase synthetase deficiency, 253270

Green HLCS in Inborn errors of metabolism


Version 2.133
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Holocarboxylase synthetase deficiency
    • Holocarboxylase synthetase deficiency, 253270
    • lactic acidosis with seizures and eczema, immune deficiency
    • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)

    Green HLCS in Possible mitochondrial disorder - nuclear genes


    Version 1.41
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270

    Red HLCS in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

    Green HLCS in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018

    Amber HLCS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.343
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270

    Green HLCS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1074
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270
    • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

    Green HLCS in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.34
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270

    Red HLCS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.102
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green HLCS in Severe Paediatric Disorders


    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270