LIAS

lipoic acid synthetase
OMIM: 607031, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green LIAS in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.44 Latest signed off version: v1.41 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Green LIAS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Green LIAS in Likely inborn error of metabolism Level 2: Metabolic Version 9.33 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green LIAS in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.25 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Amber LIAS in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.7 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Green LIAS in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Green LIAS in Early onset or syndromic epilepsy Level 2: Neurology Version 9.84 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462
Green LIAS in Intellectual disability Level 2: Developmental disorders Version 11.31 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462
Green LIAS in Mitochondrial disorders Level 2: Mitochondrial Version 10.25 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Red LIAS in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH