HLCS

holocarboxylase synthetase
OMIM: 609018, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green HLCS in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	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 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Holocarboxylase synthetase deficiency 253270
Green HLCS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Holocarboxylase synthetase deficiency, 253270
Red HLCS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.163 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Green HLCS in DDG2P Version 6.432 Latest signed off version: v6.0 (30 Apr 2025) 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 Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 2: Developmental disorders Version 9.327 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH