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Early onset or syndromic epilepsy v3.39 NPRL3 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:34965576 describes conditional knockout mouse model of NPRL3-related epilepsy.
Early onset or syndromic epilepsy v3.39 NPRL3 Achchuthan Shanmugasundram Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016; 34965576
Early onset or syndromic epilepsy v3.38 NPRL3 Achchuthan Shanmugasundram Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016
Early onset or syndromic epilepsy v1.213 NPRL2 Rebecca Foulger commented on gene: NPRL2: NPRL2 re-reviewed for curation of GMS epilepsy panel: Sufficient cases for inclusion but variants in unaffected family members (explained by the authors as incomplete penetrance). Other members of the complex, NPRL3 and DEPDC5, are Green on the panel. Since the last curation there has been a Green review by Deb Pal (Kings College London): PMID:30093711 (2019) note 3 further probands with epilepsy (including 1 with infantile spasm and unclear effect on the protein). They also note incomplete penetrance for variants in their cohort of 73 patients (covering DEPDC5 + NPRL2 + NPRL3 genes which all form the GATOR1 complex together). Awaiting clinical review for final gene rating.
Early onset or syndromic epilepsy v1.191 NPRL3 Rebecca Foulger Source Wessex and West Midlands GLH was added to NPRL3.
Early onset or syndromic epilepsy v1.190 NPRL3 Rebecca Foulger Source NHS GMS was added to NPRL3.
Early onset or syndromic epilepsy v1.189 NPRL3 Rebecca Foulger reviewed gene: NPRL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NPRL3 Tracy Lester reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26505888; Phenotypes: Epilepsy, familial focal, with variable foci 3, 617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1224 NPRL3 Ivone Leong Marked gene: NPRL3 as ready
Early onset or syndromic epilepsy v0.1224 NPRL3 Ivone Leong Gene: nprl3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1224 NPRL3 Ivone Leong Classified gene: NPRL3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1224 NPRL3 Ivone Leong Added comment: Comment on list classification: NPRL3 is confirmed to be associated with Epilepsy, familial focal on OMIM but not on Gene2Phenotype. There are >3 cases (PMID: 26505888; 26285051; 27173016) of patients from unrelated families who have familial focal epilepsy with variants in NPRL3.
Early onset or syndromic epilepsy v0.1224 NPRL3 Ivone Leong Gene: nprl3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1219 NPRL3 Ivone Leong Added comment: Comment on mode of inheritance: Incomplete penetrance was observed in some of the studies (PMID: 265005888,26285051).
Early onset or syndromic epilepsy v0.1219 NPRL3 Ivone Leong Mode of inheritance for gene: NPRL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1217 NPRL3 Ivone Leong Publications for gene: NPRL3 were set to
Early onset or syndromic epilepsy v0.1212 NPRL3 Ivone Leong Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3, 617118
Early onset or syndromic epilepsy NPRL3 Zornitza Stark reviewed gene: NPRL3
Early onset or syndromic epilepsy NPRL3 Sarah Leigh Added gene to panel