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Primary immunodeficiency or monogenic inflammatory bowel disease v8.73 ASXL1 Ida Ertmanska Phenotypes for gene: ASXL1 were changed from chronic viral infections; v Bohring-Opitz syndrome, OMIM:605039; Myelodysplastic syndrome, somatic, OMIM: 614286iral-associated malignancies; combined immune deficiency to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Boaz Palterer, there is a single case reported in literature with biallelic variants in ASXL1 and features of primary immunodeficiency. This gene should be rated Red for Primary immunodeficiency or monogenic inflammatory bowel disease until more evidence emerges.; to: Comment on list classification: As reviewed by Boaz Palterer, there is a single case reported in literature with biallelic variants in ASXL1 and features of primary immunodeficiency. This gene should be rated Red for Primary immunodeficiency or monogenic inflammatory bowel disease until more evidence emerges.
ASXL1 is associated with AD Bohring-Opitz syndrome, OMIM:605039 and Myelodysplastic syndrome, somatic, OMIM: 614286 (OMIM accessed 3rd Nov 2025).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska changed review comment from: Comment on phenotypes: ASXL1 is associated with AD Bohring-Opitz syndrome, OMIM:605039 and Myelodysplastic syndrome, somatic, OMIM: 614286 (OMIM accessed 3rd Nov 2025).; to: Comment on phenotypes:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska edited their review of gene: ASXL1: Changed phenotypes to: combined immunodeficiency MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska Added comment: Comment on phenotypes: ASXL1 is associated with AD Bohring-Opitz syndrome, OMIM:605039 and Myelodysplastic syndrome, somatic, OMIM: 614286 (OMIM accessed 3rd Nov 2025).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.72 ASXL1 Ida Ertmanska Phenotypes for gene: ASXL1 were changed from chronic viral infections; viral-associated malignancies; combined immune deficiency to chronic viral infections; v Bohring-Opitz syndrome, OMIM:605039; Myelodysplastic syndrome, somatic, OMIM: 614286iral-associated malignancies; combined immune deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v8.71 ASXL1 Ida Ertmanska reviewed gene: ASXL1: Rating: RED; Mode of pathogenicity: None; Publications: 40742536; Phenotypes: Bohring-Opitz syndrome, OMIM:605039, Myelodysplastic syndrome, somatic, OMIM: 614286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.69 ASXL1 Ida Ertmanska Classified gene: ASXL1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.69 ASXL1 Ida Ertmanska Gene: asxl1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.24 ASXL1 Boaz Palterer gene: ASXL1 was added
gene: ASXL1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ASXL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASXL1 were set to 40742536
Phenotypes for gene: ASXL1 were set to chronic viral infections; viral-associated malignancies; combined immune deficiency
Penetrance for gene: ASXL1 were set to unknown
Review for gene: ASXL1 was set to RED
Added comment: Fu et al. present a single case report with biallelic germline missense variants in ASXL1. The patient had a history of hematologic abnormalities and viral-associated complications, including chronic macrocytosis, persistent vaccine-strain rubella granulomas, and EBV-associated Hodgkin lymphoma. Immunophenotyping revealed loss of B cells, hypogammaglobulinemia, and impairments in cytotoxic T and NK cell populations. T cells exhibited skewing toward an exhausted memory phenotype, global DNA methylation loss, and increased epigenetic aging. These aberrations were ameliorated by wild-type ASXL1 transduction, confirming the patient variants’ pathogenicity.
Sources: Literature