LIAS

lipoic acid synthetase
OMIM: 607031
PanelMode of inheritanceDetails
5 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperglycinemia, lactic acidosis, and seizures, 614462
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462, Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462