1. Panels
  2. Fetal anomalies
  3. NPRL2
Genes in panel
Prev Next

Fetal anomalies

Gene: NPRL2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

Highly variable disorder including complete non-penetrance in some. However, associated with focal cortical dysplasia and severe epilepsy in some. NB, has a partner gene NPRL3, if this one is accepted then that one should be too. Actually very small numbers for both. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Epilepsy, familial focal, with variable foci 2, OMIM:617116
OMIM
607072
Clinvar variants
Variants in NPRL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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 Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116