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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: MYB

No list

MYB (MYB proto-oncogene, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000118513
EnsemblGeneIds (GRCh37): ENSG00000118513
OMIM: 189990, Gene2Phenotype
MYB is in 1 panel

1 review

Boaz Palterer (University of Florence)

Green List (high evidence)

Aaron Boothby et al. presented ten heterozygous germline MYB variants in seven families and four unrelated singletons. The variants segregated with autoimmune cytopenias, including Evans syndrome, in three five-generation pedigrees. In our cohort of 41 carriers, 22 were affected by autoimmune cytopenias, while one had isolated B cell lymphopenia and neutropenia.

https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.16/281957/MYB-Haploinsufficiency-Causes-Familial-Autoimmune
Sources: Literature
Created: 17 Jun 2026, 1:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Evans syndrome
  • Neutropenia
  • Autoimmune cytopenias
  • B cell lymphopenia
OMIM
189990
Clinvar variants
Variants in MYB
Penetrance
Incomplete
Panels with this gene

History Filter Activity

17 Jun 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

gene: MYB was added gene: MYB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MYB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYB were set to Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia Penetrance for gene: MYB were set to Incomplete Review for gene: MYB was set to GREEN