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Intellectual disability

Gene: NLRP3

Red List (low evidence)

NLRP3 (NLR family pyrin domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 12 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

update from clinical team: developmental delay appears to be secondary to the meningitic complications, rather than a primary feature. The PMIDs listed do not clearly link SNVs in this gene and ID and therefore I would leave the rating as red, although I acknowledge there is a contiguous gene deletion with delay as a phenotype but we do not have evidence as to the critical gene(s)
Created: 24 Jul 2018, 12:34 p.m.

Olivia Niblock (Genomics England Curator)

I don't know

There are strong links between variants in this gene and disorders of the immune system (CINCA/NOMID syndrome; Familial cold-induced inflammatory syndrome 1), however the literature (PMID: 17646489; PMID: 28328126) suggests that some of these patients also exhibit developmental delay and mental retardation. In one paper (17646489), all 17 patients (with NOMID) studied were noted to have developmental delay, with 11 of these patients having a known variant in NLRP3, although it should be noted that one of the 17 patients had no detectable variant in this gene. Details into the specifics of each patient's developmental delay was not provided.
In the other paper (28328126), a patient with microcephaly and mental retardation is noted to have a deletion affecting this gene amongst others.
Created: 28 Feb 2018, 3:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cold-induced autoinflammatory syndrome, familial, 120100Muckle-Wells syndrome, 191900CINCA syndrome, 607115
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen