Genomics England

RAD50 interactor 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes liver failure, short stature, skeletal abnormalities, Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844