HLCS

holocarboxylase synthetase
OMIM: 609018, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green HLCS in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2

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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Holocarboxylase synthetase deficiency 253270

Green HLCS in Inborn errors of metabolism


Version 1.54

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 Molecular autopsy


Version 0.91

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

Green HLCS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.105

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

Red HLCS in GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2


Version 0.4

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

Green HLCS in Cardiomyopathies - including childhood onset


Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 DDG2P


Version 1.44

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

Green HLCS in Possible mitochondrial disorder - nuclear genes


Version 0.187

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

Red HLCS in Fetal anomalies


Version 0.250

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

Green HLCS in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 1.292

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270

Green HLCS in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.846

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 Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.51

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert