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Intellectual disability

Gene: LIAS

Amber List (moderate evidence)

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

2 reviews

Helen Brittain (Genomics England Curator)

I don't know

In view of the very early onset of seizures and metabolic disturbance leading to presentation, rather than DD/ID, I am not sure of the clinical utility for a pure ID cohort. This gene is already green on genetic epilepsy syndrome, metabolic and mitochondrial panels. This decision can be reviewed in light of the scope of the ID panel.
Created: 19 Jul 2019, 11:48 a.m. | Last Modified: 19 Jul 2019, 11:48 a.m.
Panel Version: 0.204

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.
There are 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).Severe development delay reported in all surviving individuals, therefore sufficient cases to add LIAS to the ID panel.
Created: 21 May 2019, 3:35 p.m. | Last Modified: 18 Jul 2019, 4:01 p.m.
Panel Version: 0.202

Details

History Filter Activity

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

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

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: LIAS was added gene: LIAS was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: LIAS was set to Publications for gene: LIAS were set to 22152680; 26108146; 24334290; 30914295 Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures, 614462