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Genetic Epilepsy

Gene: NPRL3

Green List (high evidence)

NPRL3 (NPR3 like, GATOR1 complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000103148
EnsemblGeneIds (GRCh37): ENSG00000103148
OMIM: 600928, Gene2Phenotype
NPRL3 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature.
Created: 23 Mar 2022, 11:07 p.m. | Last Modified: 23 Mar 2022, 11:07 p.m.
Panel Version: 0.1503

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial focal, with variable foci 3- MIM#617118

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 3- MIM#617118
OMIM
600928
Clinvar variants
Variants in NPRL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nprl3 has been classified as Green List (High Evidence).

24 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118

24 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPRL3 were set to

24 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPRL3 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: NPRL3 was added gene: NPRL3 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: NPRL3 was set to Unknown