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Molecular autopsy

Gene: LIAS

Green List (high evidence)
LIAS (lipoic acid synthetase)
EnsemblGeneIds (GRCh38): ENSG00000121897
EnsemblGeneIds (GRCh37): ENSG00000121897
OMIM: 607031, Gene2Phenotype
LIAS is in 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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))
OMIM
607031
Clinvar variants
Variants in LIAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 for gene: LIAS

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LIAS was added gene: LIAS was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 27604308 Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))