06 Aug 2019
Early onset or syndromic epilepsy v1.191
NUBPL
Rebecca Foulger Source Wessex and West Midlands GLH was added to NUBPL.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NUBPL
Rebecca Foulger Source NHS GMS was added to NUBPL.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NUBPL
Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
14 Nov 2018
Early onset or syndromic epilepsy v0.856
NUBPL
Eleanor Williams Marked gene: NUBPL as ready
14 Nov 2018
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.
14 Nov 2018
Early onset or syndromic epilepsy v0.856
NUBPL
Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.856
NUBPL
Eleanor Williams Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010
14 Nov 2018
Early onset or syndromic epilepsy v0.855
NUBPL
Eleanor Williams Publications for gene: NUBPL were set to
14 Nov 2018
Early onset or syndromic epilepsy v0.854
NUBPL
Eleanor Williams Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Nov 2018
Early onset or syndromic epilepsy v0.853
NUBPL
Eleanor Williams Classified gene: NUBPL as Amber List (moderate evidence)
14 Nov 2018
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
14 Nov 2018
Early onset or syndromic epilepsy v0.853
NUBPL
Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.852
NUBPL
Eleanor Williams commented on gene: NUBPL
17 Aug 2018
Early onset or syndromic epilepsy
NUBPL
Zornitza Stark reviewed gene: NUBPL
25 Jun 2018
Early onset or syndromic epilepsy
NUBPL
Sarah Leigh Added gene to panel