Combined Immunodeficiency
Gene: RBCK1

RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 9 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

14 individuals from 11 unrelated families; two mouse model

homozygous or compound heterozygous mutations in the RBCK1 gene (missense, deletion, frameshift) resulting in truncated protein.

Clinically, individuals present in infancy with skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency (recurrent infections in early infancy).
Created: 10 Aug 2021, 12:35 a.m. | Last Modified: 10 Aug 2021, 12:35 a.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia

Publications

Created: 10 Aug 2021, 12:35 a.m.
Last Modified: 10 Aug 2021, 12:35 a.m.
Panel version: 0.291

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895
muscular weakness
cardiomyopathy
recurrent bacterial/viral infections
autoinflammation
immunodeficiency
Poor antibody responses to polysaccharides
failure to thrive
fever
pneumonia

OMIM

610924

Clinvar variants

Variants in RBCK1

Penetrance

None

Publications

Panels with this gene