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DDG2P

Gene: LIAS

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
OMIM
607031
Clinvar variants
Variants in LIAS
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: LIAS was added gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 22152680; 26108146 Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments