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Early onset or syndromic epilepsy

Gene: LIPT1

Amber List (moderate evidence)

LIPT1 (lipoyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: This metabolic gene is associated with Lipoyltransferase 1 deficiency 616299 in OMIM and as a probable gene for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. In addition to the six variants that have been reported in five cases Lipoyltransferase 1 deficiency 616299, two further variants have been reported in two unrelated cases of Lipoyltransferase 1 deficiency 616299 who also have epieptic seizures (PMID 29681092; 31042466).
Created: 23 Jul 2020, 1:22 p.m. | Last Modified: 23 Jul 2020, 1:22 p.m.
Panel Version: 2.125
Sources: Literature
Created: 23 Jul 2020, 1:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoyltransferase 1 deficiency 616299

Publications

History Filter Activity

23 Jul 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LIPT1 were set to 29681092; 31042466

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lipt1 has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: LIPT1 was added gene: LIPT1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 29681092; 31042466 Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency 616299 Review for gene: LIPT1 was set to AMBER