A- or hypo-gammaglobulinaemia

Gene: MYD88

Amber List (moderate evidence)

MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 3 panels

4 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: One red, amber and green review, several publictions, but no association gen2phen
Created: 10 May 2016, 11:36 a.m.
Comment on mode of inheritance: Reported as homozygous and heterozygous loss of function
Created: 10 May 2016, 11:28 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
  • Macroglobulinemia, Waldenstrom, somatic, 153600
OMIM
602170
Clinvar variants
Variants in MYD88
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYD88 were set to 18669862; 23215570

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYD88 were set to 18669862 23215570

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for MYD88 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MYD88 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYD88 were set to 18669862 23215570

10 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260; Macroglobulinemia, Waldenstrom, somatic, 153600

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYD88 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen