Malformations of cortical development
Gene: NPRL2

NPRL2 (NPR2 like, GATOR1 complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000114388
EnsemblGeneIds (GRCh37): ENSG00000114388
OMIM: 607072, Gene2Phenotype
NPRL2 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

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

Created: 6 Dec 2021, 4:31 p.m.
Last Modified: 6 Dec 2021, 4:31 p.m.
Panel version: 2.110

Zornitza Stark (Australian Genomics)

I don't know

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 list
Created: 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

Created: 28 Aug 2020, 1:37 a.m.

Panel version: 2.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Epilepsy, familial focal, with variable foci 2, OMIM:617116

OMIM

607072

Clinvar variants

Variants in NPRL2

Penetrance

Incomplete

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: NPRL2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

6 Dec 2021, Gel status: 2