Malformations of cortical development
Gene: NPRL2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. It should be noted that not all patients with variants in this gene has focal cortical dysplasia; however, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Dec 2021, 4:36 p.m. | Last Modified: 6 Dec 2021, 4:36 p.m.
Panel Version: 2.111
Comment on publications: PMID: 30093711 describes another 2 cases with FCD.Created: 6 Dec 2021, 4:31 p.m. | Last Modified: 6 Dec 2021, 4:31 p.m.
Panel Version: 2.110
Focal cortical dysplasia reported in some patients
PMID: 29281825 (2017) - LOF variant identified in a patient with left frontal focal cortical dysplasia
PMID: 27173016 (2016) - cohort of focal epilepsy patients. LOF function variant in a family with focal epilepsy and focal cortical dysplasia. Segregated with two affected individuals but reduced penetrance and variable expressivity was observed.
Summary: associated with focal cortical dysplasia in two families. Recent review (PMID: 31625153) also states, mutations in NPRL2 have been linked to focal epilepsy with a less clear association with Focal Cortical Dysplasia.
Sources: Expert listCreated: 28 Aug 2020, 1:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 2, MIM# 617116
Publications
Tag Q4_21_rating was removed from gene: NPRL2.
Source Expert Review Green was added to NPRL2. Source NHS GMS was added to NPRL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Penetrance for gene NPRL2 was set from to None
Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: NPRL2.
Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153
Phenotypes for gene: NPRL2 were changed from Epilepsy, familial focal, with variable foci 2, MIM# 617116 to Epilepsy, familial focal, with variable foci 2, OMIM:617116
gene: NPRL2 was added gene: NPRL2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, MIM# 617116 Review for gene: NPRL2 was set to AMBER