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Early onset or syndromic epilepsy v1.191 LIPT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to LIPT2.
Early onset or syndromic epilepsy v1.190 LIPT2 Rebecca Foulger Source NHS GMS was added to LIPT2.
Early onset or syndromic epilepsy v1.189 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 LIPT2 Tracy Lester reviewed gene: LIPT2: Rating: RED; Mode of pathogenicity: ; Publications: 28757203; Phenotypes: Encephalopathy neonatal severe with lactic acidosis and brain abnormalities, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Marked gene: LIPT2 as ready
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in one case
in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
Early onset or syndromic epilepsy v0.1474 LIPT2 Sarah Leigh Mode of inheritance for gene: LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1473 LIPT2 Sarah Leigh Publications for gene: LIPT2 were set to
Early onset or syndromic epilepsy v0.1472 LIPT2 Sarah Leigh Tag watchlist tag was added to gene: LIPT2.
Early onset or syndromic epilepsy LIPT2 Zornitza Stark reviewed gene: LIPT2
Early onset or syndromic epilepsy LIPT2 Sarah Leigh Added gene to panel