Cytopenias and congenital anaemias
Gene: MYD88
MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 4 panels
2 reviews
Olivia Niblock (Genomics England Curator)
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)
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