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Early onset or syndromic epilepsy v1.191 LNPK Rebecca Foulger Source Wessex and West Midlands GLH was added to LNPK.
Early onset or syndromic epilepsy v1.190 LNPK Rebecca Foulger Source NHS GMS was added to LNPK.
Early onset or syndromic epilepsy v1.189 LNPK Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 LNPK Tracy Lester reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Marked gene: LNPK as ready
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 homozygous variants identified in 2 unrelated cases.
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Classified gene: LNPK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Tag watchlist tag was added to gene: LNPK.
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
Early onset or syndromic epilepsy LNPK Zornitza Stark reviewed gene: LNPK
Early onset or syndromic epilepsy LNPK Konstantinos Varvagiannis Added gene to panel