COVID-19 research
Gene: LPIN2
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 phenotype in OMIM and not in Gen2Phen. At least 5 variants identified in 4 unrelated cases.Created: 19 Jun 2018, 3:39 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): LPIN2 .PanelApp HGNC gene symbol check: LPIN2 . IUIS Disease: Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome) . IUIS Inheritance: AR .T cells: Progressive decrease, .B cells: N/A, .IUIS Other affected cells: Neutrophils, bone marrow cells. IUIS Associated features: Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related ConditionsCreated: 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 downloaded from ESID Registry. ESID_Gene_original: LPIN2, PanelApp HGNC gene symbol check: LPIN2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defectCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: LPIN2, GRID_Gene_Symbol: LPIN2, GRID_Transcript_ENS_Community submitted: ENST00000261596, GRID_Transcript_RefSeq: NM_014646.2, GRID_Transcript_ENS_used_on_Production: ENST00000261596Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: LPIN2 were changed from Other autoinflammatory diseases with known genetic defect; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders; Majeed syndrome 609628 to Majeed syndrome, OMIM:609628; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders
gene: LPIN2 was added gene: LPIN2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN2 were set to 17330256; 29387759; 27860302; 15994876 Phenotypes for gene: LPIN2 were set to Other autoinflammatory diseases with known genetic defect; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders; Majeed syndrome 609628