CBLB

Cbl proto-oncogene B
OMIM: 604491, Gene2Phenotype

2 panels

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430
Tags
  • Q4_23_promote_green
Red CBLB in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

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