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GENATLAS PHENOTYPE

last update : 19-09-2012

Symbol	RIDIS
Location	3q29
Name	RIDDLE syndrome
Corresponding gene	RNF168
Main clinical features	syndrome mimicking ataxia-telangiectasia radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties cells exhibit a hypersensitivity to ionizing radiation, cell cycle checkpoint abnormalities, and impaired end-joining in the recombined switch regions ataxia, telangiectasia, elevated alphafetoprotein, immunodeficiency, microcephaly and pulmonary failure (PMID: 21394101))
Genetic determination	not applicable
Function/system disorder
Type	disease

Remark(s)

defects in TP53BP1-mediated DNA damage signaling , but no mutations in the gene