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  3. LIAS
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Early onset or syndromic epilepsy

Gene: LIAS

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperglycinemia, lactic acidosis, and seizures, 614462

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Ivone Leong (Genomics England Curator)

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.
Created: 21 Nov 2018, 12:47 p.m.

Panel version: 0.1031

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 16 Aug 2018, 11:29 a.m.

Panel version: 0.335

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures, 614462
OMIM
607031
Clinvar variants
Variants in LIAS
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to LIAS.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to LIAS.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

21 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lias has been classified as Green List (High Evidence).

21 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lias has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, 614462

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to LIAS. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

LIAS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

LIAS was created by Sarah Leigh