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Primary immunodeficiency

Gene: MYD88

Green List (high evidence)

MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 5 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Louise Daugherty (Genomics England Curator)

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.

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • 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
OMIM
602170
Clinvar variants
Variants in MYD88
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYD88.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to MYD88.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MYD88.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to MYD88. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to MYD88. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myd88 has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

2 May 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling

2 May 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260; Defects of TLR/NFkappa-B signalling

2 May 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYD88 were set to 18669862; 23215570

2 May 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260

2 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

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

29 Mar 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

MYD88 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 2

Created

Louise Daugherty (Genomics England Curator)

MYD88 was created by Louise Daugherty