Periodic fever syndromes

Gene: NLRP12

Green List (high evidence)

NLRP12 (NLR family pyrin domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000142405
EnsemblGeneIds (GRCh37): ENSG00000142405
OMIM: 609648, Gene2Phenotype
NLRP12 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Mode of inheritance sourced from OMIM.
Created: 16 Jan 2017, 12:02 p.m.
Comment on list classification: Updated rating from Red to Green: NLRP12 is included in Eligibility statement 'Prior Genetic Testing' list. Plus >3 cases of NLRP12 mutations causative of FCAS in the literature (including PMID:27314497 and PMID:18230725).
Created: 16 Jan 2017, 12:01 p.m.
Xia et al, 2016 (PMID:27314497) report a novel heterozygous stop-gain mutation (c.1223G>A, Trp408X) in NLRP12 in autosomal dominant inherited FCAS with clinical features of recurrent fever and skin urticaria due to cold conditions. PMID:27314497 summarises the six NLRP12 variants (including Trp408X) that are reported in the literature to be causative of FCAS.
Created: 16 Jan 2017, 11:59 a.m.
In affected members of 2 unrelated families from Guadeloupe with FCAS2 (OMIM:611762) Jeru et al. (2008, PMID:18230725) identified heterozygous mutations in the NLRP12 gene: In a father and his twin sons Jeru et al., identified a 850C-T transition in exon 3 (R284X). In a father and daughter Jeru et al. identified a 1-bp insertion (2072+3insT) within the donor splice site of intron 3, resulting in a frameshift and premature protein truncation (rs104895565).
Created: 16 Jan 2017, 11:46 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Familial cold autoinflammatory syndrome 2
  • 611762
OMIM
609648
Clinvar variants
Variants in NLRP12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NLRP12 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene NLRP12 were set to Familial cold autoinflammatory syndrome 2; 611762

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL