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  3. NPRL3
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Malformations of cortical development

Gene: NPRL3

Green List (high evidence)
NPRL3 (NPR3 like, GATOR1 complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000103148
EnsemblGeneIds (GRCh37): ENSG00000103148
OMIM: 600928, Gene2Phenotype
NPRL3 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

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
Created: 13 Dec 2021, 10:20 a.m.
Last Modified: 13 Dec 2021, 10:20 a.m.
Panel version: 2.114

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families reported where focal cortical dysplasia is a feature, but also reduced penetrance noted. Borderline Amber/Green.
Sources: Expert list
Created: 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

Created: 28 Aug 2020, 1:41 a.m.

Panel version: 2.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
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

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: NPRL3.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

13 Dec 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: NPRL3.

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nprl3 has been classified as Amber List (Moderate Evidence).

13 Dec 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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