Malformations of cortical development
Gene: NPRL3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given a Green rating at the next review.Created: 13 Dec 2021, 10:20 a.m. | Last Modified: 13 Dec 2021, 10:20 a.m.
Panel Version: 2.114
Three families reported where focal cortical dysplasia is a feature, but also reduced penetrance noted. Borderline Amber/Green.
Sources: Expert listCreated: 28 Aug 2020, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 3 (MIM#617118)
Publications
Tag Q4_21_rating was removed from gene: NPRL3.
Source Expert Review Green was added to NPRL3. Source NHS GMS was added to NPRL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: NPRL3.
Gene: nprl3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NPRL3 were changed from Epilepsy, familial focal, with variable foci 3 (MIM#617118) to Epilepsy, familial focal, with variable foci 3, OMIM:617118
gene: NPRL3 was added gene: NPRL3 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 26285051 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3 (MIM#617118) Review for gene: NPRL3 was set to GREEN