Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MYD88
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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): MYD88 .PanelApp HGNC gene symbol check: MYD88 . IUIS Disease: MyD88 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Bacterial infections (pyogens). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial SusceptibilityCreated: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: added in back the ESID categoryCreated: 2 May 2018, 10:31 a.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Amber. The gene is present in the 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, 10:29 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MyD88, PanelApp HGNC gene symbol check: MyD88, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signallingCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MYD88, GRID_Gene_Symbol: MYD88, GRID_Transcript_ENS_Community submitted: ENST00000417037, GRID_Transcript_RefSeq: NM_001172567.1, GRID_Transcript_ENS_used_on_Production: ENST00000417037Created: 17 Apr 2018, 12:12 p.m.
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 3 variants identified in at least 4 unrelated casesCreated: 2 May 2018, 10:19 a.m.
Comment on phenotypes: Autosomal dominant driving variant NM_002468.4:c.794T>C, NP_002459.2:p.Leu265Pro associated with susceptibility to {Macroglobulinemia, Waldenstrom, susceptibility to, 1} 153600Created: 2 May 2018, 10:17 a.m.
Although causing subtle abnormalities of B cell differentiation and antibody production, biallelic mutations of this gene are not linked to hypo-or a-gammaglobulinaemia to my knowledgeCreated: 19 Oct 2015, 1:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent pyogenic bacterial infection
Source NHS GMS was added to MYD88.
Source North West GLH was added to MYD88.
Source London North GLH was added to MYD88.
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 MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260, Defects of TLR/NFkappa-B signalling, recurrent pyogenic bacterial infection, Bacterial infections (pyogens), Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to MYD88. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to MYD88. Panel: Primary immunodeficiency disorders
Gene: myd88 has been classified as Green List (High Evidence).
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling; recurrent pyogenic bacterial infection
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling; recurrent pyogenic bacterial infection
Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling
Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling
Publications for MYD88 were set to 18669862; 23215570
This gene has been classified as Green List (High Evidence).
Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
ESID Registry 20171117 was added to MYD88. Panel: Primary immunodeficiency disorders Phenotypes for gene MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260, Macroglobulinemia, Waldenstrom, somatic, 153600, Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, Defects of TLR/NFkappa-B signalling
Phenotypes for gene MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260, Macroglobulinemia, Waldenstrom, somatic, 153600, Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
GRID V2.0 was added to MYD88. Panel: Primary immunodeficiency disorders Model of inheritance for gene MYD88 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260, Macroglobulinemia, Waldenstrom, somatic, 153600, Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
MYD88 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25
MYD88 was created by Louise Daugherty