Pyruvate dehydrogenase (PDH) deficiency
Gene: LIAS
LIAS (lipoic acid synthetase)
EnsemblGeneIds (GRCh38): ENSG00000121897
EnsemblGeneIds (GRCh37): ENSG00000121897
OMIM: 607031, Gene2Phenotype
LIAS is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000121897
EnsemblGeneIds (GRCh37): ENSG00000121897
OMIM: 607031, Gene2Phenotype
LIAS is in 10 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: LIAS; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM.Created: 10 Feb 2016, 12:33 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 12:33 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
- OMIM
- 607031
- Clinvar variants
- Variants in LIAS
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
1 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LIAS was added gene: LIAS was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462