Chromosome Breakage Disorders
Gene: RNF168EnsemblGeneIds (GRCh38): ENSG00000163961
EnsemblGeneIds (GRCh37): ENSG00000163961
OMIM: 612688, Gene2Phenotype
RNF168 is in 4 panels
1 review
Danielle Ariti (University of Melbourne)
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: LiteratureCreated: 10 Aug 2021, 7:31 a.m.
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- OMIM
- 612688
- Clinvar variants
- Variants in RNF168
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf168 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf168 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)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