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  3. NPRL3
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Fetal anomalies

Gene: NPRL3

Red List (low evidence)
NPRL3 (NPR3 like, GATOR1 complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000103148
EnsemblGeneIds (GRCh37): ENSG00000103148
OMIM: 600928, Gene2Phenotype
NPRL3 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 Chandler (North Thames GLH)

Red List (low evidence)

Green in 3 panels including cortical malformation panel. Went green in Feb 2023. PMID:35136953 pedigree - 21 patients, 8/17 who had MRI with focal cortical dysplasia, 1 had megalencephaly. Reduced penetrance - 26% for epilepsy.Other papers similar - predominantly FCD and variable prenetrance. Would this be detected if no other features to warrant doing MRI? Reduced penetrance would be an issue. 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 3, OMIM:617118

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 3, OMIM:617118
OMIM
600928
Clinvar variants
Variants in NPRL3
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: NPRL3 was added gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118