CBLB

Cbl proto-oncogene B
OMIM: 604491, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CBLB in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430
Red CBLB in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic