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Cytopenias and congenital anaemias

Gene: MYD88

Red List (low evidence)

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

2 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Literature sources and COSMIC indicate that variants in this gene are somatic.
Created: 9 Mar 2017, 4:32 p.m.

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Lymphoma

Variants in this GENE are reported as part of current diagnostic practice

Details

Sources
  • Expert Review Red
  • 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
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MYD88 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MYD88 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MYD88 was created by LouiseD