RNF168

ring finger protein 168
OMIM: 612688, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RNF168 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

Green RNF168 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Green RNF168 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    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

    Green RNF168 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    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