Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Gene: NPRL3

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27173016
-1x family with 12 affecteds. only 1x had FCD
- nonsense variant

PMID: 26285051;
- 2x unrelated FCD patients + 1x family with 2 affecteds
- 1x non-canonical splice + 1x missense + 1x fs
- variants are inherited from asymptomatic parents. ?reduced penetrance
Created: 26 Aug 2020, 5:15 a.m. | Last Modified: 26 Aug 2020, 5:15 a.m.

Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Created: 26 Aug 2020, 5:15 a.m.
Last Modified: 26 Aug 2020, 5:15 a.m.
Panel version: 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations 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