Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: MYD88

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

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): 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 Susceptibility

Created: 2 Jul 2018, 10:35 a.m.

Comment on phenotypes: added in back the ESID category

Created: 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 signalling

Created: 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: ENST00000417037

Created: 17 Apr 2018, 12:12 p.m.

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

Red List (low evidence)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in at least 4 unrelated cases

Created: 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} 153600

Created: 2 May 2018, 10:17 a.m.

Green List (high evidence)

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 knowledge

Created: 19 Oct 2015, 1:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recurrent pyogenic bacterial infection