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| Early onset or syndromic epilepsy v2.126 | LIPT1 | Sarah Leigh Publications for gene: LIPT1 were set to 29681092; 31042466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.125 | LIPT1 | Sarah Leigh Classified gene: LIPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.125 | LIPT1 | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.125 | LIPT1 | Sarah Leigh Gene: lipt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.124 | LIPT1 |
Sarah Leigh 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 Added comment: Sources: Literature |
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