Early onset or syndromic epilepsy
Gene: NPRL3Comment on publications: PMID:34965576 describes conditional knockout mouse model of NPRL3-related epilepsy.Created: 10 Feb 2023, 6:04 p.m. | Last Modified: 10 Feb 2023, 6:04 p.m.
Panel Version: 3.39
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 3, 617118
Publications
Comment on list classification: NPRL3 is confirmed to be associated with Epilepsy, familial focal on OMIM but not on Gene2Phenotype. There are >3 cases (PMID: 26505888; 26285051; 27173016) of patients from unrelated families who have familial focal epilepsy with variants in NPRL3.Created: 29 Nov 2018, 11:07 a.m.
Comment on mode of inheritance: Incomplete penetrance was observed in some of the studies (PMID: 265005888,26285051).Created: 29 Nov 2018, 10:58 a.m.
Multiple affected individuals from unrelated families reported with variants in this gene.Created: 17 Aug 2018, 11:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 3, MIM#617118
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016; 34965576
Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016
Source Wessex and West Midlands GLH was added to NPRL3.
Source NHS GMS was added to NPRL3.
Zornitza Stark: Multiple affected individuals
Gene: nprl3 has been classified as Green List (High Evidence).
Gene: nprl3 has been classified as Green List (High Evidence).
Mode of inheritance for gene: NPRL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPRL3 were set to
Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3, 617118
Expert Review Amber was added to NPRL3. Panel: Genetic Epilepsy Syndromes
NPRL3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NPRL3 was created by Sarah Leigh