Combined Immunodeficiency

Gene: RNF168

Green List (high evidence)

4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.

One mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.

Homozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.

Typically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature.

Created: 10 Aug 2021, 5:55 a.m. | Last Modified: 10 Aug 2021, 5:55 a.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly

Publications

• 19203578
• 21394101
• 29255463
• 21552324