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Genetic Epilepsy

Gene: NPRL2

Green List (high evidence)

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

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM - Epilepsy, familial focal, with variable foci 2 (AD) - focal seizures, frontal lobe epilepsy, nocturnal frontal lobe epilepsy, temporal lobe epilepsy, focal cortical dysplasia (in some patients)

PMID: 26505888 (2016) - cohort of individuals with focal epilepsy, identified 5 het variants in NPRL2. Family 1 - 2x nocturnal frontal lobe epilepsy, Family 2 - 1x temporal lobe epilepsy (1 unaffected with variant), Family 3 - 1x temporal lobe epilepsy (1 unaffected with variant), Family 4 - 1x frontal lobe epilepsy, Family 5 - 2x nocturnal frontal lobe epilepsy, 1x focal, 1x nocturnal tonic clonic seizures

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.

PMID: 28199897 (2017) - variant identified in a patient with focal epilepsy

PMID: 31594065 (2019) - cohort of focal epilepsy patients, 1 had variant in NPRL2 (abstract only, article in Chinese)

Summary - multiple families with epilepsy, reduced penetrance reported.
Created: 26 Aug 2020, 4:12 a.m. | Last Modified: 26 Aug 2020, 4:12 a.m.
Panel Version: 0.798

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epilepsy, familial focal, with variable foci 2 617116
  • focal seizures
  • frontal lobe epilepsy
  • nocturnal frontal lobe epilepsy
  • temporal lobe epilepsy
  • focal cortical dysplasia
OMIM
607072
Clinvar variants
Variants in NPRL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nprl2 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPRL2 were changed from to Epilepsy, familial focal, with variable foci 2 617116; focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPRL2 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPRL2 was added gene: NPRL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPRL2 was set to Unknown