Early onset or syndromic epilepsy
Gene: LIAS
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperglycinemia, lactic acidosis, and seizures, 614462
Publications
Comment on list classification: Promoted from amber to green. Phenotype confirmed by OMIM. Phenotype is reported as probably caused by LIAS on Gene2Phenotype.
There are only 4 reported cases of this disease in 3 papers (PMID: 24334290, 22152680, 26108146). Of the three cases, all patients (2 of Turkish descent and 1 of Somali descent) have different variants in the LIAS gene and they all have seizures (PMID: 24334290, 22152680).Created: 21 Nov 2018, 12:47 p.m.
Seizures are part of the phenotype.Created: 16 Aug 2018, 11:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperglycinemia, lactic acidosis, and seizures, MIM#614462
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to LIAS.
Source NHS GMS was added to LIAS.
Zornitza Stark: Seizures are part of the pheno
Gene: lias has been classified as Green List (High Evidence).
Gene: lias has been classified as Green List (High Evidence).
Mode of inheritance for gene: LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, 614462
Expert Review Amber was added to LIAS. Panel: Genetic Epilepsy Syndromes
LIAS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
LIAS was created by Sarah Leigh