Genomics England
GMS Panels
Panels
Genes and Entities

RNF168

ring finger protein 168
OMIM: 612688
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RIDDLE syndrome 611943, RNF168 deficiency, Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity, Combined immunodeficiencies with associated or syndromic features