1. Panels
  2. Disorders of immune dysregulation
  3. CBLB
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Disorders of immune dysregulation

Gene: CBLB

Green List (high evidence)
CBLB (Cbl proto-oncogene B)
EnsemblGeneIds (GRCh38): ENSG00000114423
EnsemblGeneIds (GRCh37): ENSG00000114423
OMIM: 604491, Gene2Phenotype
CBLB is in 2 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking.
Sources: Literature
Created: 1 Sep 2022, 7:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune disease, MONDO:0007179

Publications

Created: 1 Sep 2022, 7:08 a.m.

Panel version: 0.152

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430
OMIM
604491
Clinvar variants
Variants in CBLB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: cblb has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: cblb has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: CBLB was added gene: CBLB was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBLB were set to 36006710 Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179 Review for gene: CBLB was set to GREEN