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Genetic Epilepsy

Gene: LIAS

Green List (high evidence)

LIAS (lipoic acid synthetase)
EnsemblGeneIds (GRCh38): ENSG00000121897
EnsemblGeneIds (GRCh37): ENSG00000121897
OMIM: 607031, Gene2Phenotype
LIAS is in 9 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 reported unrelated individuals
Created: 28 Mar 2022, 2:38 a.m. | Last Modified: 28 Mar 2022, 2:38 a.m.
Panel Version: 0.12068

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
OMIM
607031
Clinvar variants
Variants in LIAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LIAS were set to 22152680; 24334290; 26108146

28 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LIAS were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIAS was added gene: LIAS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIAS was set to Unknown