SEPT6

septin 6
OMIM: 300683, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list SEPT6 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Congenital neutropenia
  • B cell deficiency
  • T cell lymphopenia
  • Abnormal newborn screening for SCID
  • Hypersegmented neutrophils
  • Myelodysplasia
  • Decreased circulating B cells
  • Leukopenia