HLCS

holocarboxylase synthetase
OMIM: 609018, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green HLCS in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holocarboxylase synthetase deficiency, MIM# 253270
Tags
  • treatable

Green HLCS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holocarboxylase synthetase deficiency, MIM# 253270
    Tags
    • treatable

    Green HLCS in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holocarboxylase synthetase deficiency, MIM# 253270
    Tags
    • treatable

    Green HLCS in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Tags
    • treatable

    Green HLCS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • holocarboxylase synthetase deficiency MONDO:0009666
    Tags
    • treatable

    Green HLCS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270 (3)

    Green HLCS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Holocarboxylase synthetase deficiency

    Green HLCS in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holocarboxylase synthetase deficiency 253270
    Tags
    • treatable

    Green HLCS in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270 (3)

    Green HLCS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Holocarboxylase synthetase deficiency, MIM#253270
    Tags
    • treatable
    • metabolic

    Green HLCS in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Holocarboxylase synthetase deficiency, 253270 (3)

    Green HLCS in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Disorders of biotin metabolism
    • holocarboxylase synthetase deficiency MONDO:0009666