Autoinflammatory Disorders
Gene: RBCK1
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, 7:24 a.m. | Last Modified: 10 Aug 2021, 7:24 a.m.
Panel Version: 0.115
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
Gene: rbck1 has been classified as Green List (High Evidence).
Phenotypes for gene: RBCK1 were changed from to 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 for gene: RBCK1 were set to
Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: RBCK1 was added gene: RBCK1 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RBCK1 was set to Unknown