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  3. NPRL2
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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease NPRL2-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 9:47 p.m.
Panel Version: 5.44

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

Phenotypes
NPRL2-related familial focal epilepsy with or without focal cortical dysplasia

Publications

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 9:47 p.m.
Panel version: 5.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NPRL2-related familial focal epilepsy with or without focal cortical dysplasia
OMIM
607072
Clinvar variants
Variants in NPRL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NPRL2 was added gene: NPRL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPRL2 were set to 28199897; 34965576; 37259768; 34376795; 30093711; 31835056; 27173016; 26505888 Phenotypes for gene: NPRL2 were set to NPRL2-related familial focal epilepsy with or without focal cortical dysplasia