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BabyScreen+ newborn screening

Gene: LIAS

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
increased serum glycine and lactate in the first days of life, hypotonia, seizures, early death
No treatment
Sources: Expert list
Created: 27 Feb 2023, 1:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperglycinemia, lactic acidosis, and seizures MIM#614462

Publications

Created: 27 Feb 2023, 1:45 a.m.

Panel version: 0.1872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
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

5 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lias has been classified as Red List (Low Evidence).

5 Mar 2023, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIAS were set to PMID: 24334290, 24777537,

5 Mar 2023, Gel status: 1

Removed Source, Added New Source, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert list was removed from LIAS. Source Expert Review was added to LIAS. Rating Changed from No List (delete) to Red List (low evidence)

5 Mar 2023, Gel status: 0

Clear Sources

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

All sources for gene: LIAS were removed

5 Mar 2023, Gel status: 0

Clear Sources

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

All sources for gene: LIAS were removed

5 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lias has been classified as Red List (Low Evidence).

27 Feb 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: LIAS was added gene: LIAS was added to gNBS. Sources: Expert list Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to PMID: 24334290, 24777537, Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures MIM#614462 Review for gene: LIAS was set to RED