Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NLRP12Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:36 p.m. | Last Modified: 14 Oct 2020, 1:36 p.m.
Panel Version: 2.286
The following PubMed IDs were added to entity NLRP12: 18230725;27633793;21360512. These publications have been associated with OMIM phenotype MIM#611762, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 611762Created: 8 May 2018, 3:55 p.m.
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 InflammasomeCreated: 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: ENST00000324134Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2, 611762; preterm premature rupture of membranes (PPROM); Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; Autoinflammatory Disorders to Familial cold autoinflammatory syndrome 2, OMIM:611762; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Preterm premature rupture of membranes (PPROM); Autoinflammatory Disorders
Gene: nlrp12 has been classified as Green List (High Evidence).
Source Other was added to NLRP12. Publications for gene NLRP12 were updated from 18230725; 27779193; 27633793; 29178652; 29248470 to 18230725; 27633793; 29178652; 21360512; 27779193; 29248470 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to NLRP12.
Source North West GLH was added to NLRP12.
Source London North GLH was added to NLRP12.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene NLRP12 were set to Familial cold autoinflammatory syndrome 2, 611762, preterm premature rupture of membranes (PPROM), Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure., Autoinflammatory Disorders
IUIS Classification February 2018 was added to NLRP12. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to NLRP12. Panel: Primary immunodeficiency disorders
Gene: nlrp12 has been classified as Green List (High Evidence).
Phenotypes for NLRP12 were set to Familial cold autoinflammatory syndrome 2, 611762; preterm premature rupture of membranes (PPROM)
Phenotypes for NLRP12 were set to Familial cold autoinflammatory syndrome 2, 611762
Phenotypes for NLRP12 were set to Familial cold autoinflammatory syndrome 2 611762
This gene has been classified as Green List (High Evidence).
Publications for NLRP12 were set to 18230725; 27779193; 27633793; 29178652; 29248470
Phenotypes for NLRP12 were set to Familial cold autoinflammatory syndrome 2 611762; preterm premature rupture of membranes (PPROM)
Publications for NLRP12 were set to 18230725; 27779193; 27633793; 29178652
Mode of inheritance for NLRP12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for NLRP12 were set to Familial cold autoinflammatory syndrome 2 611762
Expert Review Amber was added to NLRP12. Panel: Primary immunodeficiency disorders
Phenotypes for gene NLRP12 were set to Familial cold autoinflammatory syndrome 2
NLRP12 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
NLRP12 was created by Louise Daugherty