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Early onset or syndromic epilepsy v1.191 NUBPL Rebecca Foulger Source Wessex and West Midlands GLH was added to NUBPL.
Early onset or syndromic epilepsy v1.190 NUBPL Rebecca Foulger Source NHS GMS was added to NUBPL.
Early onset or syndromic epilepsy v1.189 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NUBPL Tracy Lester reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 20818383; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Marked gene: NUBPL as ready
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases associating NUBPL with Mitochondrial complex I deficiency but not sufficient cases with epilepsy/seizure phenotype to rate this gene green on this panel.
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.855 NUBPL Eleanor Williams Publications for gene: NUBPL were set to
Early onset or syndromic epilepsy v0.854 NUBPL Eleanor Williams Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Classified gene: NUBPL as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Added comment: Comment on list classification: Keeping Amber as only 1 confirmed case of patient with epilepsy
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 NUBPL Eleanor Williams commented on gene: NUBPL
Early onset or syndromic epilepsy NUBPL Zornitza Stark reviewed gene: NUBPL
Early onset or syndromic epilepsy NUBPL Sarah Leigh Added gene to panel