Disorders of immune dysregulation
Gene: NBEAL2EnsemblGeneIds (GRCh38): ENSG00000160796
EnsemblGeneIds (GRCh37): ENSG00000160796
OMIM: 614169, Gene2Phenotype
NBEAL2 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gray platelet syndrome, MIM# 139090
Peter McNaughton (Queensland Children's Hospital)
Patients with NBEAL2 deficiency present with ALPS-like disease with autoimmune manifestations including Evans syndrome, chill blain lupus, autoimmune thyroiditis, and/or antiplatelet autoantibodies. Functional data demonstrating that NBEAL2 affects CTLA4 expression regulation.
Sources: LiteratureCreated: 26 Jul 2024, 4:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation
Publications
- PMID: 37349339
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Gray platelet syndrome, MIM# 139090
- Immune dysregulation
- OMIM
- 614169
- Clinvar variants
- Variants in NBEAL2
- Penetrance
- None
- Publications
-
- PMID: 37349339
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nbeal2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nbeal2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: NBEAL2 was added gene: NBEAL2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBEAL2 were set to PMID: 37349339 Phenotypes for gene: NBEAL2 were set to Immune dysregulation Review for gene: NBEAL2 was set to GREEN