Periodic fever syndromes
Gene: NLRP12Comment 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.
Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2; 611762 to Familial cold autoinflammatory syndrome 2, OMIM:611762
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NLRP12 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for gene NLRP12 were set to Familial cold autoinflammatory syndrome 2; 611762
NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
NLRP12 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL