COVID-19 research
Gene: CARMIL2
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: Not associated with phenotype in OMIM or in Gen2Phen. PMID 27896283 reports 4 Norwegian cases from three families who had the same variant (p.Leu639His) together together with a shared haplotype.Created: 9 May 2018, 3:34 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): RLTPR .PanelApp HGNC gene symbol check: CARMIL2 . IUIS Disease: RLTPR (CARMIL2) deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative ConditionsCreated: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 12 Jun 2018, 10:48 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 12 Jun 2018, 10:48 a.m.
removed founder tag- different variants (and consequences) have been found in other populations not just of Norwegian origin. PMID:27647349 and 28112205Created: 12 Jun 2018, 10:46 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support there are more than three unrelated families with combined immunodeficiency; EBV+ disseminated smooth muscle tumoursCreated: 12 Jun 2018, 10:41 a.m.
previous HGNC gene symbol for CARMIL2 was RLTPRCreated: 12 Jun 2018, 10:26 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RLTPR, PanelApp HGNC gene symbol check: CARMIL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
gene: CARMIL2 was added gene: CARMIL2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 27647349; 27896283; 28112205 Phenotypes for gene: CARMIL2 were set to warts, molluscum contagiosum, and T cell dysfunction; Combined immunodeficiency; Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy; Diseases of Immune Dysregulation; EBV+ disseminated smooth muscle tumours