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| Chromosome Breakage Disorders v1.3 | RNF168 | Zornitza Stark Marked gene: RNF168 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.3 | RNF168 | Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.3 | RNF168 | Zornitza Stark Classified gene: RNF168 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.3 | RNF168 | Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.2 | RNF168 |
Danielle Ariti gene: RNF168 was added gene: RNF168 was added to Chromosome Breakage Disorders. Sources: Literature Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324 Phenotypes for gene: RNF168 were set to 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 Review for gene: RNF168 was set to GREEN Added comment: 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. Sources: Literature |
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