Periodic fever syndromes
Gene: NLRP12EnsemblGeneIds (GRCh38): ENSG00000142405
EnsemblGeneIds (GRCh37): ENSG00000142405
OMIM: 609648, Gene2Phenotype
NLRP12 is in 5 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, OMIM:611762
- OMIM
- 609648
- Clinvar variants
- Variants in NLRP12
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2; 611762 to Familial cold autoinflammatory syndrome 2, OMIM:611762
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for NLRP12 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene NLRP12 were set to Familial cold autoinflammatory syndrome 2; 611762
Added New Source
Ellen McDonagh (Genomics England Curator)NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL