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STRs in panel
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COVID-19 research

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

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with Familial cold autoinflammatory syndrome 2 611762 in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases for this condition, together with supporting animal model studies (PMID: 27779193). At least 2 variants also reported in the additional phenotype of preterm premature rupture of membranes (PPROM) in 2 cases (PMID 29178652; 29248470)
Created: 8 May 2018, 4:08 p.m.
Comment on phenotypes: Familial cold autoinflammatory syndrome 2 611762
Created: 8 May 2018, 3:55 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NLRP12 .PanelApp HGNC gene symbol check: NLRP12 . IUIS Disease: Familial cold autoinflammatory syndrome 2 . IUIS Inheritance: AD GOF .T cells: Progressive decrease, .B cells: N/A, .IUIS Other affected cells: PMNs, monocytes. IUIS Associated features: Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure. . IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NLRP12, GRID_Gene_Symbol: NLRP12, GRID_Transcript_ENS_Community submitted: ENST00000324134, GRID_Transcript_RefSeq: NM_144687.3, GRID_Transcript_ENS_used_on_Production: ENST00000324134
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Autoinflammatory Disorders
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.
  • preterm premature rupture of membranes (PPROM)
  • Familial cold autoinflammatory syndrome 2, 611762
OMIM
609648
Clinvar variants
Variants in NLRP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: NLRP12 was added gene: NLRP12 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRP12 were set to 29248470; 29178652; 27633793; 18230725; 27779193 Phenotypes for gene: NLRP12 were set to Autoinflammatory Disorders; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; preterm premature rupture of membranes (PPROM); Familial cold autoinflammatory syndrome 2, 611762